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Almut Hirst-Stadlmann

Research Profile

Disorders

Chemicals & Drugs

Physiology

Geographic Areas

Austria

Concepts & Ideas

Pedigree

Procedures

Infant Welfare

Anatomy

Phenomena

Polymorphism, Single-Stranded Conformational

Genes & Molecular Sequences

Dominant Genes

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Publications

TOP 3
Andreas R Janecke; Almut Hirst-Stadlmann; Barbara Günther; Barbara Utermann; Thomas Müller; Jürgen Löffler; Gerd Utermann; Doris Nekahm-Heis
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Edda Haberlandt; Jürgen Löffler; Almut Hirst-Stadlmann; B Stöckl; W Judmaier; H Fischer; P Heinz-Erian; T Müller; Gerd Utermann; R J Smith; Andreas R Janecke
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
D Nekahm; Viktor Weichbold; Kunigunde Welzl-Mueller; Almut Hirst-Stadlmann
Improvement in early detection of congenital hearing impairment due to universal newborn hearing screening.

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All Publications

2002: Andreas R Janecke; Almut Hirst-Stadlmann; Barbara Günther; Barbara Utermann; Thomas Müller; Jürgen Löffler; Gerd Utermann; Doris Nekahm-Heis
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Human genetics 2002;111(2):145-53.
2001: Edda Haberlandt; Jürgen Löffler; Almut Hirst-Stadlmann; B Stöckl; W Judmaier; H Fischer; P Heinz-Erian; T Müller; Gerd Utermann; R J Smith; Andreas R Janecke
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
Journal of medical genetics 2001;38(6):405-9.
2001: D Nekahm; Viktor Weichbold; Kunigunde Welzl-Mueller; Almut Hirst-Stadlmann
Improvement in early detection of congenital hearing impairment due to universal newborn hearing screening.
International journal of pediatric otorhinolaryngology 2001;59(1):23-8.
2001: Andreas R Janecke; D Nekahm; Jürgen Löffler; Almut Hirst-Stadlmann; Thomas Müller; Gerd Utermann
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Human genetics 2001;108(3):269-70.
2001: Jürgen Löffler; D Nekahm; Almut Hirst-Stadlmann; Barbara Günther; HJ Menzel; Gerd Utermann; Andreas R Janecke
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
European journal of human genetics : EJHG 2001;9(3):226-30.

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