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Christoph Hertzberg

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Publications

TOP 3
A E Würde; S Haverkämper; Christoph Hertzberg; L Lehle; G Nürnberg; P Nürnberg; J Reunert; Rainer Rossi; S Rust; Thorsten Marquardt
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Hossein Najmabadi; Lucia Püttmann; Anna Rajab; Imma Rost; Andreas Tzschach; Reinhard Ullmann; Leyla Nouri Vahid; Robert Weissmann; Dagmar Wieczorek; Klaus Wrogemann; Agnes Zecha; Tomasz Zemojtel; Seyedeh Sedigheh Abedini; Mohammad Javad Soltani Banavandi; Farkhondeh Behjati; Melanie Bienek; Wei Chen; Monika Cohen; Hossein Darvish; Atefeh Dehghan; Sahar Esmaeeli-Nieh; Masoumeh Falah; Zohreh Fattahi; Saghar Ghasemi Firouzabadi; Masoud Garshasbi; Stefan Haas; Valeh Hadavi; Christoph Hertzberg; Julia Hoffer; Masoumeh Hosseini; Hao Hu; Payman Jamali; Corinna Jensen; Kimia Kahrizi; Vera Kalscheuer; Roxana Kariminejad; Andreas Walter Kuss; Farzaneh Larti; Bettina Lipkowitz; Lia Abbasi Moheb; Marzieh Mohseni; Faezeh Mojahedi; Ines Mueller; Luciana Musante; H Hilger Ropers
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Wencke Weber-Ferro; Katharina Timme; Christoph Hertzberg; Helmut Röder; Rainer Rossi
Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis.

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All Publications

2012: A E Würde; S Haverkämper; Christoph Hertzberg; L Lehle; G Nürnberg; P Nürnberg; J Reunert; Rainer Rossi; S Rust; Thorsten Marquardt
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Molecular genetics and metabolism 2012;105(4):634-41.
2011: Hossein Najmabadi; Lucia Püttmann; Anna Rajab; Imma Rost; Andreas Tzschach; Reinhard Ullmann; Leyla Nouri Vahid; Robert Weissmann; Dagmar Wieczorek; Klaus Wrogemann; Agnes Zecha; Tomasz Zemojtel; Seyedeh Sedigheh Abedini; Mohammad Javad Soltani Banavandi; Farkhondeh Behjati; Melanie Bienek; Wei Chen; Monika Cohen; Hossein Darvish; Atefeh Dehghan; Sahar Esmaeeli-Nieh; Masoumeh Falah; Zohreh Fattahi; Saghar Ghasemi Firouzabadi; Masoud Garshasbi; Stefan Haas; Valeh Hadavi; Christoph Hertzberg; Julia Hoffer; Masoumeh Hosseini; Hao Hu; Payman Jamali; Corinna Jensen; Kimia Kahrizi; Vera Kalscheuer; Roxana Kariminejad; Andreas Walter Kuss; Farzaneh Larti; Bettina Lipkowitz; Lia Abbasi Moheb; Marzieh Mohseni; Faezeh Mojahedi; Ines Mueller; Luciana Musante; H Hilger Ropers
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature 2011;478(7367):57-63.
2011: Wencke Weber-Ferro; Katharina Timme; Christoph Hertzberg; Helmut Röder; Rainer Rossi
Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis.
Acta paediatrica (Oslo, Norway : 1992) 2011;100(9):e138-40.
2011: Malte Spielmann; Marc Trimborn; Christoph Hertzberg; Denise Horn; Stefan Mundlos; Gabriele Reichelt; Eva Klopocki
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
European journal of medical genetics 2011;54(4):e441-5.
2011: Andreas W Kuss; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Farkhondeh Behjati; Hossein Darvish; Lia Abbasi-Moheb; Lucia Püttmann; Agnes Zecha; Robert Weissmann; Hao Hu; Marzieh Mohseni; Seyedeh Sedigheh Abedini; Anna Rajab; Christoph Hertzberg; Dagmar Wieczorek; Reinhard Ullmann; Saghar Ghasemi-Firouzabadi; Susan Banihashemi; Sanaz Arzhangi; Valeh Hadavi; Gholamreza Bahrami-Monajemi; Mahboubeh Kasiri; masoom falah; Pooneh Nikuei; Atefeh Dehghan; Masoumeh Sobhani; Payman Jamali; Hans-Hilger Ropers; Hossein Najmabadi
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Human genetics 2011;129(2):141-8.
2011: Sabine Haverkaemper; Christoph Hertzberg; Thomas Kuehn; Thorsten Marquardt; Ingrid Hausser; Katharina Timme; Rainer Rossi
Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
Neonatology 2011;100(2):194-7.
2010: Georgia Ramantani; Jürgen Kohlhase; Christoph Hertzberg; A Micheil Innes; Kerstin Engel; Susan Hunger; Wiktor Borozdin; Jean K Mah; Kristina Ungerath; Hartmut Walkenhorst; Hans-Helmut Richardt; Johannes Buckard; Andrea Bevot; Corinna Siegel; Celina von Stülpnagel; Chrysanthy Ikonomidou; Kara Thomas; Virginia Proud; Frank Niemann; Dagmar Wieczorek; Martin Häusler; Pascal Niggemann; Volkan Baltaci; Karsten Conrad; Pierre Lebon; Min Ae Lee-Kirsch
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis and rheumatism 2010;62(5):1469-77.
2010: Oliver Bartsch; Konstanze Gebauer; Stanislav Lechno; Hilde van Esch; Guy Froyen; Michael Bonin; Jörg Seidel; Barbara Thamm-Mücke; Denise Horn; Eva Klopocki; Christoph Hertzberg; Ulrich Zechner; Thomas Haaf
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
American journal of medical genetics. Part A 2010;152A(2):305-12.
2007: G Uyanik; D J Morris-Rosendahl; J Stiegler; J Klapecki; C Gross; Y Berman; P Martin; L Dey; S Spranger; G C Korenke; I Schreyer; Christoph Hertzberg; T E Neumann; P Burkart; C Spaich; M Meng; H Holthausen; L Adès; J Seidel; E Mangold; G Buyse; P Meinecke; U Schara; C Zeschnigk; D Muller; G Helland; B Schulze; M L Wright; S Kortge-Jung; A Hehr; Ulrich Bogdahn; G Schuierer; Juergen Kohlhase; Ludwig Aigner; G Wolff; U Hehr; J Winkler
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Neurology 2007;69(5):442-7.
2005: Jörg Klepper; Hans Scheffer; Bärbel Leiendecker; Elena Gertsen; S Binder; M Leferink; Christoph Hertzberg; A Näke; Thomas Voit; Michèl A A P Willemsen
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
Neuropediatrics 2005;36(5):302-8.