FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Lihadh Al-Gazali

Research Profile

Concepts & Ideas

Disorders

Geographic Areas

United Arab Emirates

Living Beings

Physiology

Genes & Molecular Sequences

Recessive Genes

Anatomy

Procedures

Chromosome Mapping

Chemicals & Drugs

Base Sequence

Co-author Network

Publications

TOP 3
Simone Funke; Thatjana Gardeitchik; Adrienne Horvath; Eckhard Korsch; Dorus Kouwenberg; Dirk J Lefeber; Miski Mohamed; Maciej Adamowicz; Lihadh Al-Gazali; Ron A Wevers; SB Wortmann; Eva Morava
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Nadia A Akawi; Bassam R Ali; Fuat E Canpolat; Maria José Gamundi; Ganeshwaran H Mochida; Martin Morales Sanchez; Josep Quilis-Esquerra; Christopher A Walsh; Susan M White; Lihadh Al-Gazali
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
S Ben-Salem; B R Ali; M A Begum; Lihadh Al-Gazali
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Lihadh Al-Gazali (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Simone Funke; Thatjana Gardeitchik; Adrienne Horvath; Eckhard Korsch; Dorus Kouwenberg; Dirk J Lefeber; Miski Mohamed; Maciej Adamowicz; Lihadh Al-Gazali; Ron A Wevers; SB Wortmann; Eva Morava
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
American journal of medical genetics. Part A 2013;161(3):578-84.
2013: Nadia A Akawi; Bassam R Ali; Fuat E Canpolat; Maria José Gamundi; Ganeshwaran H Mochida; Martin Morales Sanchez; Josep Quilis-Esquerra; Christopher A Walsh; Susan M White; Lihadh Al-Gazali
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Human mutation 2013;34(3):498-505.
2013: S Ben-Salem; B R Ali; M A Begum; Lihadh Al-Gazali
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
Molecular syndromology 2013;3(6):255-61.
2013: Imad Y Saadeldin; Reham M Milhem; Lihadh Al-Gazali; Bassam R Ali
Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.
Pediatric neurology 2013;48(1):63-6.
2013: Alistair N Hume; Anne John; Sarah S Al-Suwaidi; Nadia A Akawi; Aydah M Al-Awadhi; Lihadh Al-Gazali; Bassam R Ali
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Molecular and cellular biochemistry 2013;373(1-2):247-57.
2012: Jozef L Hertecant; Muhaned A Marah; Thikra Abbas; Lihadh Al-Gazali; Fatma A Al-Jasmi; Said A Al-Yahyaee; Leila Ayadi; Salma Ben Salem; Imen Ben-Rebeh; Bassam R Ali
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
European journal of medical genetics 2012;55(12):671-6.
2012: Mathilde Nizon; Antonio Rossi; David Sillence; Beyhan Tuysuz; Merel C Van Maarle; Catheline Vilain; Ian Young; Klaus Zerres; Fabio De Leonardis; Julie Désir; Antonella Forlino; Mélanie Fradin; Harinder Gill; Marie T Greally; Céline Huber; Erkan Koparir; Carine Le Goff; Martine Le Merrer; Sara MacKay; Rodolphe Merrina; Geert Mortier; Jenny Morton; Arnold Munnich; Bassam Y Abu-Libdeh; Yasemin Alanay; Beate Albrecht; Lihadh Al-Gazali; Sarenur Yilmaz Basaran; Jill Clayton-Smith; Valérie Cormier-Daire
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Human mutation 2012;33(8):1261-6.
2012: N A Akawi; Lihadh Al-Gazali; B R Ali
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.
Clinical genetics 2012;82(2):147-56.
2012: Nadia A Akawi; Bassam R Ali; Lihadh Al-Gazali
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(7):553-6.
2012: N A Akawi; B R Ali; Lihadh Al-Gazali
Stüve-Wiedemann syndrome and related bent bone dysplasias.
Clinical genetics 2012;82(1):12-21.
2012: Fernando Jose Martinez; Elizabeth Nickerson; Ji Eun Lee; Jeong Ho Lee; Lihadh Al-Gazali; Sandra Blanco; Michaela Frye; Stacey Gabriel; Joseph G Gleeson
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
Journal of medical genetics 2012;49(6):380-5.
2012: Imen Ben-Rebeh; Jozef L Hertecant; Hanan E Aburawi; Lihadh Al-Gazali; Fatma A Al-Jasmi; Said A Al-Yahyaee; Bassam R Ali
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Genetic testing and molecular biomarkers 2012;16(5):366-71.
2012: Leen Abu-Safieh; Lama Al-Abdi; Mushari Alamr; Shamsa Al-Anazi; Lihadh Al-Gazali; Amal Al-Hashem; Zuhair N Al-Hassnan; SELWA AL-HAZZAA; Basim Alkuraya; Hisham Alkuraya; May Alrashed; Ahmad Al-Salem; Moeen Alsayed; Eissa Faqeih; Mais Hashem; Arif O Khan; Jawahir Y Mohamed; Zuhair Rahbeeni; Mugtaba O Sirelkhatim; Ameen Softah; Peter E M Taschner; Sami Wali; Fowzan S Alkuraya
In search of triallelism in Bardet-Biedl syndrome.
European journal of human genetics : EJHG 2012;20(4):420-7.
2012: Jeong Ho Lee; Clare V Logan; Anna Rajab; Carsten Russ; Saghira Malik Sharif; Jennifer L Silhavy; Laszlo Sztriha; Sophie Thomas; Enza Maria Valente; Elizabeth R Waters; C Geoffrey Woods; Maha S Zaki; Masumi Abe; Lihadh Al-Gazali; Tania Attié-Bitach; Christopher P Bennett; Stephanie L Bielas; Francesco Brancati; Erica E Davis; Bill H Diplas; Susan Ferro-Novick; Stacey B Gabriel; Friedhelm Hildebrandt; Kiley J Hill; Miriam Iannicelli; Colin A Johnson; Nicholas Katsanis; Roshan Koul; Ji Eun Lee; Joseph G Gleeson
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Science (New York, N.Y.) 2012;335(6071):966-9.
2012: Bassam R Ali; Joseph G Gleeson; Matthew J Gleeson; Jennifer L Silhavy; Lihadh Al-Gazali
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
BMC medical genetics 2012;13():80.
2012: Bassam R Ali; Joseph G Gleeson; Jennifer L Silhavy; Nadia A Akawi; Lihadh Al-Gazali
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Orphanet journal of rare diseases 2012;7():27.
2011: Miski Mohamed; Lihadh Al-Gazali; Vincent Cantagrel; Dirk J Lefeber; Ron A Wevers; Eva Morava
Normal glycosylation screening does not rule out SRD5A3-CDG.
European journal of human genetics : EJHG 2011;19(10):1019.
2011: Sevjidmaa Baasanjav; Christian Becker; Vincent Cantagrel; Bjoern Fischer; Joseph G Gleeson; Delphine Gomez; Taishi Hashiguchi; Denise Horn; Ruth Langer; Tom H Lindner; Jean-Baptiste Michel; Shuji Mizumoto; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Ahmed A H Saleh; Dominik Seelow; Sigmar Stricker; Kazuyuki Sugahara; Lihadh Al-Gazali; bassam rushdi ali; Samir A A Aziz; Katrin Hoffmann
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
American journal of human genetics 2011;89(1):15-27.
2011: Nadia A Akawi; bassam rushdi ali; Hanan A Hamamy; Azmy Al-Hadidy; Lihadh Al-Gazali
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
American journal of medical genetics. Part A 2011;155A(6):1236-45.
2011: bassam rushdi ali; Jozef L Hertecant; Fatima A Al-Jasmi; Mohamed A Hamdan; Sawsan F Khuri; Nadia A Akawi; Lihadh Al-Gazali
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
Saudi medical journal 2011;32(4):353-9.
2011: Lihadh Al-Gazali
Genome-sequencing anniversary. Human genome sequencing: celebrating 10 years.
Science (New York, N.Y.) 2011;331(6019):873.
2011: Ofélia P Carvalho; Gemma K Thornton; Joseph Hertecant; Henry Houlden; Adeline K Nicholas; James Cox; Mary Rielly; Lihadh Al-Gazali; C Geoffrey Woods
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.
Journal of medical genetics 2011;48(2):131-5.
2011: R M Hanna; Sarah E Marsh; D Swistun; Lihadh Al-Gazali; M S Zaki; G M Abdel-Salam; A Al-Tawari; L Bastaki; Hulya Kayserili; A Rajab; B Boglárka; R B Dietrich; William B Dobyns; C L Truwit; S Sattar; N A Chuang; Elliott H Sherr; Joseph G Gleeson
Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Neurology 2011;76(4):373-82.
2011: bassam rushdi ali; Shamma A Al-Shamisi; Nouf A Al-Shehhi; Imen Ben-Rebeh; Anne John; Reham M Milhem; Nadia A Akawi; Mouza M Al-Ameri; Lihadh Al-Gazali
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
PloS one 2011;6(10):e26206.
2010: Ganeshwaran H Mochida; Vijay S Ganesh; Jillian M Felie; Danielle Gleason; R Sean Hill; Katie Rose Clapham; Daniel Rakiec; Wen-Hann Tan; Nadia Akawi; Muna Al-Saffar; Jennifer N Partlow; Sigrid Tinschert; A James Barkovich; Bassam Ali; Lihadh Al-Gazali; Christopher Walsh
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
American journal of human genetics 2010;87(6):882-9.
2010: Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin M L C Huijben; Conny van Ravenswaaij-Arts; Marjolijn Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michèl A A P Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Brain : a journal of neurology 2010;133(11):3210-20.
2010: Masashi Suzuki; Wim Van Paesschen; Ingeborg Stalmans; Shoko Horita; Hideomi Yamada; Bruno A Bergmans; Eric Legius; Florence Riant; Peter De Jonghe; Yuehong Li; Takashi Sekine; Takashi Igarashi; Ichiro Fujimoto; Katsuhiko Mikoshiba; Mitsunobu Shimadzu; Masaaki Shiohara; Nancy Braverman; Lihadh Al-Gazali; Toshiro Fujita; George Seki
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(36):15963-8.
2010: Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; bassam rushdi ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell 2010;142(2):203-17.
2010: bassam rushdi ali; Huifang Xu; Nadia A Akawi; Anne John; Noushad Karuvantevida; RD Langer; Lihadh Al-Gazali; Birgit Leitinger
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Human molecular genetics 2010;19(11):2239-50.
2010: Lihadh Al-Gazali; bassam rushdi ali
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Human mutation 2010;31(5):505-20.
2010: G N Bekdache; M Begum; Lihadh Al-Gazali; bassam rushdi ali; N A Akawi; H Mirghani
Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2010;30(6):628-30.
2010: bassam rushdi ali; Nadia A Akawi; Faris Chedid; Mahmood Bakir; Moghis Ur Rehman; Aiman Rahmani; Lihadh Al-Gazali
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
BMC medical genetics 2010;11():33.
2009: Jozef L Hertecant; Lihadh Al-Gazali; Noushad Karuvantevida; bassam rushdi ali
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.
Saudi medical journal 2009;30(12):1601-3.
2009: Marielle Alders; Benjamin M Hogan; Evisa Gjini; Faranak Salehi; Lihadh Al-Gazali; Eric A Hennekam; Eva E Holmberg; Marcel M A M Mannens; Margot F Mulder; G Johan A Offerhaus; Trine E Prescott; Eelco J Schroor; Joke B G M Verheij; Merlijn Witte; Petra J Zwijnenburg; Mikka Vikkula; Stefan Schulte-Merker; Raoul Hennekam
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Nature genetics 2009;41(12):1272-4.
2009: Stephanie L Bielas; Jennifer L Silhavy; Francesco Brancati; Marina V Kisseleva; Lihadh Al-Gazali; Laszlo Sztriha; Riad A Bayoumi; Maha S Zaki; Alice Abdel-Aleem; Rasim Ozgur Rosti; Hulya Kayserili; Dominika Swistun; Lesley C Scott; Enrico Bertini; Eugen Boltshauser; Elisa Fazzi; Lorena Travaglini; Seth J Field; Stephanie Gayral; Monique Jacoby; Stephane Schurmans; Bruno Dallapiccola; Philip W Majerus; Enza Maria Valente; Joseph G Gleeson
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Nature genetics 2009;41(9):1032-6.
2009: Lihadh Al-Gazali; Bedir Shather; Waleed Kaplan; Kais Algawi; bassam rushdi ali
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
American journal of medical genetics. Part A 2009;149A(2):251-6.
2008: Vincent Cantagrel; Jennifer L Silhavy; Stephanie L Bielas; Dominika Swistun; Sarah E Marsh; Julien Y Bertrand; Sophie Audollent; Tania Attié-Bitach; Kenton R Holden; William B Dobyns; David Traver; Lihadh Al-Gazali; bassam rushdi ali; Tom H Lindner; Tamara Caspary; Edgar Otto; Friedhelm Hildebrandt; Ian A Glass; Clare V Logan; Colin A Johnson; Christopher Bennett; Francesco Brancati; Enza Maria Valente; C Geoffrey Woods; Joseph G Gleeson
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics 2008;83(2):170-9.
2008: Lihadh Al-Gazali; Joseph Hertecant; K Algawi; H El Teraifi; M Dattani
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.
American journal of medical genetics. Part A 2008;146(7):813-9.
2008: Anita Rauch; Christian T Thiel; Detlev Schindler; U Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; koenraad devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
2008: Sabita K Murthy; Ashok K Malhotra; Preenu S Jacob; Sehba Naveed; Eman Em Al-Rowaished; Sara Mani; Shabeer Padariyakam; R Pramathan; Ravi Nath; Mahmoud Taleb Al-Ali; Lihadh Al-Gazali
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.
Molecular cytogenetics 2008;1():19.
2007: Mehran Taban; Dina S A Memoracion-Peralta; Heng Wang; Lihadh Al-Gazali; Elias Traboulsi
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2007;11(5):431-7.
2007: Zahurul A Bhuiyan; Mohamed A Hamdan; Eman T A Shamsi; Alex V Postma; marcel mannens; Arthur A M Wilde; Lihadh Al-Gazali
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.
Journal of cardiovascular electrophysiology 2007;18(10):1060-6.
2007: Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; koenraad devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher Walsh; Patricia K Donahoe; Barbara R Pober
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics 2007;39(8):957-9.
2007: RD Langer; Lihadh Al-Gazali; P Raupp; Elizabeth Varady
Radiological manifestations of the skeleton, lungs and brain in Stueve-Wiedemann syndrome.
Australasian radiology 2007;51(3):203-10.
2007: Nathalie Dagoneau; S Bellais; Patricia Blanchet; Pierre Sarda; Lihadh Al-Gazali; M Di Rocco; Céline Huber; F Djouadi; C Le Goff; Arnold Munnich; Valérie Cormier-Daire
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
American journal of human genetics 2007;80(5):966-70.
2007: Lihadh Al-Gazali; Raveendra Nath; Durdana Iram; Hadi Al Malik
Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.
Clinical dysmorphology 2007;16(2):105-7.
2006: James Cox; Frank Reimann; Adeline K Nicholas; Gemma Thornton; Emma Roberts; Kelly Springell; Gulshan Karbani; Hussain Jafri; Jovaria Mannan; Yasmin Raashid; Lihadh Al-Gazali; Henan Hamamy; Enza Maria Valente; Shaun Gorman; Richard Williams; Duncan P McHale; John N Wood; Fiona M Gribble; C Geoffrey Woods
An SCN9A channelopathy causes congenital inability to experience pain.
Nature 2006;444(7121):894-8.
2006: Verena Matejas; Lihadh Al-Gazali; Iradj Amirlak; Martin Zenker
A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(11):3283-6.
2006: Lihadh Al-Gazali; Hanan A Hamamy; Shaikha Al-Arrayad
Genetic disorders in the Arab world.
BMJ (Clinical research ed.) 2006;333(7573):831-4.
2006: Riad Bayoumi; Valsamma Eapen; Said Ali S Al-Yahyaee; Hameeda S Al-Barwani; Robert S Hill; Lihadh Al-Gazali
The genetic basis of inherited primary nocturnal enuresis: A UAE study.
Journal of psychosomatic research 2006;61(3):317-20.
2006: C Geoffrey Woods; Sigmar Stricker; Petra Seemann; Rowena Stern; James Cox; E Sherridan; Emma Roberts; Kelly Springell; Sheila Scott; Gulshan Karbani; S M Sharif; Carmel Toomes; Jacquelyn Bond; D Kumar; Lihadh Al-Gazali; Stefan Mundlos
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
American journal of human genetics 2006;79(2):402-8.
2006: Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
American journal of human genetics 2006;79(2):390-5.
2006: Enza Maria Valente; Jennifer L Silhavy; Francesco Brancati; Giuseppe Barrano; Suguna Rani Krishnaswami; Marco Castori; Madeline A Lancaster; Eugen Boltshauser; Loredana Boccone; Lihadh Al-Gazali; Elisa Fazzi; Sabrina Signorini; Carrie M Louie; Emanuele Bellacchio; Enrico Bertini; Bruno Dallapiccola; Joseph G Gleeson
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nature genetics 2006;38(6):623-5.
2006: Luísa Pereira; Martin Richards; Ana Goios; Antonio Alonso; Cristina Albarrán; Oscar Garcia; Doron M Behar; Mukaddes Gölge; Jiri Hatina; Lihadh Al-Gazali; Daniel G Bradley; Vincent Macaulay; António Amorim
Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale.
Forensic science international 2006;159(1):43-50.
2006: Said Ali S Al-Yahyaee; Lihadh Al-Gazali; P De Jonghe; H Al-Barwany; Mohammed Nasser Al-Kindi; E De Vriendt; Pratap R Chand; Roshan Koul; Poovathoor C Jacob; Gururaj Aithala; László Sztriha; A Parrado; Christine Van Broeckhoven; Riad Bayoumi
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
Neurology 2006;66(8):1230-4.
2006: Diaa E E Rizk; Krishnan R Nath; Intisar K Ibrahim; Nizar A Arafat; Lihadh Al-Gazali
Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.
American journal of perinatology 2006;23(1):71-4.
2005: Shoko Horita; Hideomi Yamada; Jun Inatomi; Nobuo Moriyama; Takashi Sekine; Takashi Igarashi; Yoko Endo; Majed Dasouki; Mesiha Ekim; Lihadh Al-Gazali; Mitsunobu Shimadzu; George Seki; Toshiro Fujita
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
Journal of the American Society of Nephrology : JASN 2005;16(8):2270-8.
2005: Gururaj Aithala; Elizabeth Varady; László Sztriha; Lihadh Al-Gazali; Waldemar Gorka; Michael Nork
Electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.
Journal of child neurology 2005;20(5):446-9.
2005: Enza Maria Valente; Sarah E Marsh; Marco Castori; Tracy Dixon-Salazar; Enrico Bertini; Lihadh Al-Gazali; Jean Messer; Clara Barbot; C Geoffrey Woods; Eugen Boltshauser; Asma A Al Tawari; Carmelo Damiano Salpietro; Hulya Kayserili; László Sztriha; Moez Gribaa; Michel Koenig; Bruno Dallapiccola; Joseph G Gleeson
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Annals of neurology 2005;57(4):513-9.
2005: Cecilia Giunta; Ann Randolph; Lihadh Al-Gazali; Han G Brunner; Marius Kraenzlin; Beat Steinmann
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
American journal of medical genetics. Part A 2005;133A(2):158-64.
2005: Sophie C Currier; Christine K Lee; Bernard S Chang; Adria Bodell; G Shashidhar Pai; Leela Job; Lieven Lagae; Lihadh Al-Gazali; Wafaa Eyaid; Greg Enns; William B Dobyns; Christopher Walsh
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A 2005;133A(1):53-7.
2005: László Sztriha; Johan G Johansen; Lihadh Al-Gazali
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
Journal of child neurology 2005;20(2):170-2.
2005: Lihadh Al-Gazali; R Alwash; Yousef M Abdulrazzaq
United Arab Emirates: communities and community genetics.
Community genetics 2005;8(3):186-96.
2005: Lihadh Al-Gazali
Attitudes toward genetic counseling in the United Arab Emirates.
Community genetics 2005;8(1):48-51.
2005: Adekunle Dawodu; Lihadh Al-Gazali; Elizabeth Varady; M Varghese; K Nath; V Rajan
Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates.
Community genetics 2005;8(1):31-4.
2005: Lihadh Al-Gazali; Valsamma Eapen
Genetics: global challenge, regional focus. Advances in community and preventive genetics.
Community genetics 2005;8(1):5-6.
2005: Luísa Pereira; Martin Richards; Ana Goios; Antonio Alonso; Cristina Albarrán; Oscar Garcia; Doron M Behar; Mukaddes Gölge; Jiri Hatina; Lihadh Al-Gazali; Daniel G Bradley; Vincent Macaulay; António Amorim
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.
Genome research 2005;15(1):19-24.
2004: Tracy Dixon-Salazar; Jennifer L Silhavy; Sarah E Marsh; Carrie M Louie; Lesley C Scott; Gururaj Aithala; Lihadh Al-Gazali; Asma A Al Tawari; Hulya Kayserili; László Sztriha; Joseph G Gleeson
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
American journal of human genetics 2004;75(6):979-87.
2004: Cynthia F Bartels; Hulya Bükülmez; Pius S Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh Al-Gazali; Sarina G Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong A Kim; Yanick Crow; Nancy E Braverman; Focco Van Den Akker; Matthew L Warman
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
American journal of human genetics 2004;75(1):27-34.
2004: RD Langer; Lihadh Al-Gazali; Danialla Haas; P Raupp; Elizabeth Varady
[Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].
RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin 2004;176(2):215-21.
2004: Nathalie Dagoneau; Déborah Scheffer; Céline Huber; Lihadh Al-Gazali; Maja Di Rocco; Anne Godard; Jelena Martinovic; Annick Raas-Rothschild; Sabine Sigaudy; Sheila Unger; Sophie Nicole; Bertrand Fontaine; Jean-Luc Taupin; Jean-François Moreau; andrea superti-furga; Martine Le Merrer; Jacky Bonaventure; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
American journal of human genetics 2004;74(2):298-305.
2003: Lihadh Al-Gazali; Joseph Hertecant; R Ahmed; N A Khan; R Padmanabhan
Further delineation of Hennekam syndrome.
Clinical dysmorphology 2003;12(4):227-32.
2003: Anil Agarwal; Vinaya Simha; Elif Arioglu Oral; Stephanie Ann Moran; Phillip Gorden; Stephen O'Rahilly; Zohra Zaidi; Figen Gurakan; Silva A Arslanian; Aharon Klar; Alyne Ricker; Neil H White; Lutz Bindl; Karen Herbst; Kurt Kennel; Shailendra Patel; Lihadh Al-Gazali; Abhimanyu Garg
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
The Journal of clinical endocrinology and metabolism 2003;88(10):4840-7.
2003: Lesley C Keeler; Sarah E Marsh; Esther P Leeflang; C Geoffrey Woods; László Sztriha; Lihadh Al-Gazali; Gururaj Aithala; Joseph G Gleeson
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
American journal of human genetics 2003;73(3):656-62.
2003: Srdjan Denic; Lihadh Al-Gazali
BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia.
Saudi medical journal 2003;24(6):696; author reply 696-7.
2003: Lihadh Al-Gazali; K Jehier; B Nazih; F Abtin; Danialla Haas; R Sadagahatian
Further delineation of Raine syndrome.
Clinical dysmorphology 2003;12(2):89-93.
2003: Laurence Faivre; Martine Le Merrer; Lihadh Al-Gazali; Margreet G E M Ausems; P Bitoun; Delphine Bacq; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics 2003;40(4):282-4.
2003: Yousef M Abdulrazzaq; Lihadh Al-Gazali; Abdulbari Bener; Moshadeque Hossein; Mani Verghese; Adekunle Dawodu; Rengasamy Padmanabhan
Folic acid awareness and intake survey in the United Arab Emirates.
Reproductive toxicology (Elmsford, N.Y.) 2003;17(2):171-6.
2003: Mehmet Simsek; Lihadh Al-Gazali; Reyhanah Al-Mjeni; Riad Bayoumi
Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
Clinical biochemistry 2003;36(2):151-3.
2003: Lihadh Al-Gazali; Mahmood Bakir; Zuhair Hamid; Elizabeth Varady; Mani Varghes; Danialla Haas; Abdulbari Bener; Rengasamy Padmanabhan; Yousef M Abdulrrazzaq; Adekunle Dawadu; Yeusef M Abdulrrazzzaq; Aden Kula Dawodu
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.
Birth defects research. Part A, Clinical and molecular teratology 2003;67(2):125-32.
2003: Vincent El Ghouzzi; Nathalie Dagoneau; Esther Kinning; Christel Thauvin-Robinet; Wassim Chemaitilly; Catherine Prost-Squarcioni; Lihadh Al-Gazali; Alain Verloes; Martine Le Merrer; Arnold Munnich; Richard C Trembath; Valérie Cormier-Daire
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
Human molecular genetics 2003;12(3):357-64.
2002: Srdjan Denic; Lihadh Al-Gazali
Breast cancer, consanguinity, and lethal tumor genes: simulation of BRCA1/2 prevalence over 40 generations.
International journal of molecular medicine 2002;10(6):713-9.
2002: Gururaj Aithala; D Hardy; Lihadh Al-Gazali; László Sztriha; A Roos; Michael Nork
Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?
Brain & development 2002;24(7):719-22.
2002: Lihadh Al-Gazali; Zuhair Hamid; Joseph Hertecant; Mahmood Bakir; D Nath; A Kakadekar
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.
Clinical dysmorphology 2002;11(2):79-85.
2002: Lihadh Al-Gazali; Mahmood Bakir; O A Hamud; S Gerami
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.
Clinical dysmorphology 2002;11(1):33-8.
2001: Lihadh Al-Gazali; Rengasamy Padmanabhan; Stepan Melnyk; Ping Yi; Igor P Pogribny; Marta Pogribna; Mahmood Bakir; Z A Hamid; Yousef M Abdulrazzaq; Adekunle Dawodu; S Jill James
Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.
American journal of medical genetics 2001;103(2):128-32.
2001: MJ Houseman; Andrew P Jackson; Lihadh Al-Gazali; R A Badin; Emma Roberts; Robert F Mueller
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.
Journal of medical genetics 2001;38(8):E25.
2001: Lihadh Al-Gazali; L Sztriha; F Skaff; D Haas
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
American journal of medical genetics 2001;101(3):213-20.
2001: Riad Bayoumi; Kathrin Saar; Y A Lee; G Nürnberg; André Reis; MS Nur-E-Kamal; Lihadh Al-Gazali
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Journal of medical genetics 2001;38(6):369-73.
2001: Lihadh Al-Gazali; Mahmood Bakir; Zuhair Hamid; D Nath; Danialla Haas
Micromelic dwarfism--humerus, femur and tibia type.
Clinical dysmorphology 2001;10(1):24-8.
2000: L J Pulleyn; Andrew P Jackson; Emma Roberts; A Carridice; C Muxworthy; MJ Houseman; Lihadh Al-Gazali; NJ Lench; Alexander F Markham; Robert F Mueller
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
European journal of human genetics : EJHG 2000;8(12):991-3.
2000: László Sztriha; Lihadh Al-Gazali; R J Wanders; R Ofman; Michael Nork; Gilles G Lestringant
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
Developmental medicine and child neurology 2000;42(7):492-5.
2000: Lihadh Al-Gazali; Mahmood Bakir; Zuhair Hamid; D K Nair; Danialla Haas; I Amirlak; A Rushdi
A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.
Clinical dysmorphology 2000;9(3):183-8.
2000: Lihadh Al-Gazali; Mahmood Bakir; Zuhair Hamid; Raveendra Nath; Danialla Haas
Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.
Clinical dysmorphology 2000;9(2):93-7.
2000: Adekunle Dawodu; Elizabeth Varady; M Verghese; Lihadh Al-Gazali
Neonatal audit in the United Arab Emirates: a country with a rapidly developing economy.
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ 2000;6(1):55-64.
1999: Kathrin Saar; Lihadh Al-Gazali; László Sztriha; F Rueschendorf; MS Nur-E-Kamal; André Reis; Riad Bayoumi
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
American journal of human genetics 1999;65(6):1666-71.
1999: Lihadh Al-Gazali; Mahmood Bakir; Adekunle Dawodu; Raveendra Nath; H M al-Tatari; M Gerami
Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.
Clinical dysmorphology 1999;8(4):253-8.
1999: Iradj Amirlak; S G Sabnis; Lihadh Al-Gazali; Yousef M Abdulrazzaq
A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities.
Journal of medical genetics 1999;36(8):641-4.
1999: Lihadh Al-Gazali; László Sztriha; Adekunle Dawodu; Elizabeth Varady; Mahmood Bakir; A Khdir; J Johansen
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
Journal of medical genetics 1999;36(6):461-6.
1999: László Sztriha; Lihadh Al-Gazali; E Várady; H H Goebel; Michael Nork
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Neuropediatrics 1999;30(3):141-5.
1999: László Sztriha; Lihadh Al-Gazali; Gururaj Aithala; Michael Nork
Joubert's syndrome: new cases and review of clinicopathologic correlation.
Pediatric neurology 1999;20(4):274-81.
1999: Lihadh Al-Gazali; DB Bakalinova; S Aziz; O Anwer; W Shather; László Sztriha
Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia.
Clinical dysmorphology 1999;8(2):129-34.
1999: Lihadh Al-Gazali; Mahmood Bakir; M R Sadaghatian; Raveendra Nath; Danialla Haas
Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
Clinical dysmorphology 1999;8(2):87-92.
1999: Valsamma Eapen; Lihadh Al-Gazali; Salem Bin-Othman; Mohammed T Abou-Saleh; K A el-Nasser; R Ramzy; S B Selwans; M B Skaik; F Awad; M M el-Faki; H A el-Habish; K M Hafez; F M Ibrahim; S Todary; O Y Yaghi
School mental health screening: a model for developing countries.
Journal of tropical pediatrics 1999;45(1):53-5.
1999: Lihadh Al-Gazali; László Sztriha; Adekunle Dawodu; Mahmood Bakir; M Varghese; Elizabeth Varady; J Scorer; Yousef M Abdulrazzaq; Abdulbari Bener; Rengasamy Padmanabhan
Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages.
Clinical genetics 1999;55(2):95-102.
1999: Lihadh Al-Gazali; László Sztriha; J Punnose; W Shather; Michael Nork
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
Journal of medical genetics 1999;36(2):161-6.
1999: Lihadh Al-Gazali; Mahmood Bakir; Adekunle Dawodu; Danialla Haas
Recurrence of fibrochondrogenesis in a consanguineous family.
Clinical dysmorphology 1999;8(1):59-61.
1998: Valsamma Eapen; Lihadh Al-Gazali; Salem Bin-Othman; T Pramathan
Learning disorders in school-going children--detection and diagnosis.
Journal of tropical pediatrics 1998;44(4):192-3.
1998: Valsamma Eapen; Lihadh Al-Gazali; Salem Bin-Othman; Mohammed T Abou-Saleh
Mental health problems among schoolchildren in United Arab Emirates: prevalence and risk factors.
Journal of the American Academy of Child and Adolescent Psychiatry 1998;37(8):880-6.
1998: Lihadh Al-Gazali
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.
Clinical dysmorphology 1998;7(3):201-3.
1998: Lihadh Al-Gazali; DB Bakalinova
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Clinical dysmorphology 1998;7(3):177-84.
1998: Lihadh Al-Gazali
A genetic aetiological survey of severe childhood deafness in the United Arab Emirates.
Journal of tropical pediatrics 1998;44(3):157-60.
1998: László Sztriha; Lihadh Al-Gazali; Adekunle Dawodu; Mahmood Bakir; P Chandran
Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death.
Neurology 1998;50(5):1466-9.
1998: László Sztriha; Lihadh Al-Gazali; E Várady; Michael Nork; M Varughese
Microlissencephaly.
Pediatric neurology 1998;18(4):362-5.
1998: Lihadh Al-Gazali; DB Bakalinova; Mahmood Bakir; K N Nath
XK aprosencephaly.
Clinical dysmorphology 1998;7(2):143-7.
1998: Lihadh Al-Gazali; DB Bakalinova; Mahmood Bakir
Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
Clinical dysmorphology 1998;7(2):123-6.
1997: DA Campbell; Duncan P McHale; K A Brown; LM Moynihan; MJ Houseman; Gulshan Karbani; G Parry; A H Janjua; VE Newton; Lihadh Al-Gazali; Alexander F Markham; NJ Lench; Robert F Mueller
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
Journal of medical genetics 1997;34(12):1015-7.
1997: Lihadh Al-Gazali; Abdulbari Bener; Yousef M Abdulrazzaq; R Micallef; Abdulla I Al-Khayat; T Gaber
Consanguineous marriages in the United Arab Emirates.
Journal of biosocial science 1997;29(4):491-7.
1997: Riad Bayoumi; Lihadh Al-Gazali; U Jaffer; MS Nur-E-Kamal; Adekunle Dawodu; A Bener; Valsamma Eapen; B Budowle
United Arab Emirates population data on three DNA tetrameric short tandem repeat loci: HUMTHO1, TPOX and CSF1PO--derived using multiplex polymerase chain reaction and manual typing.
Electrophoresis 1997;18(9):1637-40.
1997: K A Brown; Lihadh Al-Gazali; LM Moynihan; NJ Lench; Alexander F Markham; Robert F Mueller
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
Journal of medical genetics 1997;34(8):685-7.
1997: Lihadh Al-Gazali; Adekunle Dawodu
The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies.
Clinical dysmorphology 1997;6(3):233-7.
1997: Lihadh Al-Gazali; DB Bakalinova; Elizabeth Varady; J Scorer; Michael Nork
Further delineation of Nevo syndrome.
Journal of medical genetics 1997;34(5):366-70.
1997: L S Sztriha; Michael Nork; Yousef M Abdulrazzaq; Lihadh Al-Gazali; DB Bakalinova
Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
Pediatric neurology 1997;16(3):232-6.
1997: Lihadh Al-Gazali; DB Bakalinova; Mahmood Bakir; Adekunle Dawodu
Fibrochondrogenesis: clinical and radiological features.
Clinical dysmorphology 1997;6(2):157-63.
1997: Yousef M Abdulrazzaq; Abdulbari Bener; Lihadh Al-Gazali; Abdulla I Al-Khayat; R Micallef; T Gaber
A study of possible deleterious effects of consanguinity.
Clinical genetics 1997;51(3):167-73.
1996: Lihadh Al-Gazali; S A Aziz; F Salem
A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease.
Clinical dysmorphology 1996;5(4):321-7.
1996: Abdulbari Bener; Yousef M Abdulrazzaq; Lihadh Al-Gazali; R Micallef; Abdulla I Al-Khayat; T Gaber
Consanguinity and associated socio-demographic factors in the United Arab Emirates.
Human heredity 1996;46(5):256-64.
1996: Lihadh Al-Gazali; J al-Talabani
Setleis syndrome: autosomal recessive or autosomal dominant inheritance?
Clinical dysmorphology 1996;5(3):249-53.
1996: Lihadh Al-Gazali; DB Bakalinova; László Sztriha
Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.
Clinical dysmorphology 1996;5(3):197-206.
1996: Lihadh Al-Gazali; Adekunle Dawodu; M Hamada; Mahmood Bakir; D Bakalinová
Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: severe frontofacionasal "dysplasia" or newly recognised syndrome?
American journal of medical genetics 1996;63(2):346-7.
1996: Lihadh Al-Gazali; K Devadas; C M Hall
A new lethal neonatal short limb dwarfism.
Clinical dysmorphology 1996;5(2):159-64.
1996: Lihadh Al-Gazali; M Varghese; Elizabeth Varady; J Al Talabani; J Scorer; DB Bakalinova
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
Journal of medical genetics 1996;33(3):203-11.
1996: Lihadh Al-Gazali; W A Al-Shather
Anterior encephalocele and anophthalmia.
Clinical dysmorphology 1996;5(1):81-3.
1996: Lihadh Al-Gazali; A Abdel Raziq; W Al-Shather; R Shahzadi; N Azhar
Meckel syndrome and Dandy Walker malformation.
Clinical dysmorphology 1996;5(1):73-6.
1995: Lihadh Al-Gazali; M Hamada; W Lytle
Microcephalic osteodysplastic primordial dwarfism type II.
Clinical dysmorphology 1995;4(3):234-8.
1995: Lihadh Al-Gazali; S Makia; A Azzam; C M Hall
Wolcott-Rallison syndrome.
Clinical dysmorphology 1995;4(3):227-33.
1995: Lihadh Al-Gazali; Adekunle Dawodu; K Sabarinathan; M Varghese
The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.
Journal of medical genetics 1995;32(1):7-13.
1995: Lihadh Al-Gazali; F Abou al-Asaad
Autosomal recessive omodysplasia.
Clinical dysmorphology 1995;4(1):52-6.
1994: Lihadh Al-Gazali; J al Talabani; A Mosawi; W Lytle
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
Clinical dysmorphology 1994;3(3):238-44.
1994: Lihadh Al-Gazali; W Lytle
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature.
Clinical dysmorphology 1994;3(1):46-54.
1994: R Quaife; Lihadh Al-Gazali; S Abbes; P Fitzgerald; A Fitches; D Valler; John M Old
The spectrum of beta thalassaemia mutations in the UAE national population.
Journal of medical genetics 1994;31(1):59-61.
1994: Lihadh Al-Gazali; K Sabrinathan; K G Nair
A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
Clinical dysmorphology 1994;3(1):55-62.
1993: Lihadh Al-Gazali; R Quaife
Two sibs with unbalanced translocations in the Waardenburg gene region.
Journal of medical genetics 1993;30(7):607-9.
1993: Lihadh Al-Gazali; M Khalil; K Devadas
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
Journal of medical genetics 1993;30(6):470-5.
1993: Lihadh Al-Gazali; A Khidr; J S Prem Chandran
Cherubism, optic atrophy and short stature.
Clinical dysmorphology 1993;2(2):140-1.
1993: Lihadh Al-Gazali
The Schwartz-Jampel syndrome.
Clinical dysmorphology 1993;2(1):47-54.
1992: T Revesz; S Fletcher; Lihadh Al-Gazali; P DeBuse
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
Journal of medical genetics 1992;29(9):673-5.