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Barbara Günther

Research Profile

Chemicals & Drugs

Disorders

Geographic Areas

Physiology

Mutation

Concepts & Ideas

Pedigree

Genes & Molecular Sequences

Recessive Genes

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Publications

TOP 3
Edda Haberlandt; Christine Svejda; Stephan Felber; Sara Baumgartner; Barbara Günther; Gerd Utermann; Dieter Kotzot
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.
Andreas R Janecke; Hans Christian Hennies; Barbara Günther; Gabriele Gansl; Josef Smolle; Elisabeth M Messmer; Gerd Utermann; Olaf Rittinger
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Barbara Günther; Andrea Steiner; Doris Nekahm-Heis; Klaus Albegger; Patrick Zorowka; Gerd Utermann; Andreas R Janecke
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

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All Publications

2006: Edda Haberlandt; Christine Svejda; Stephan Felber; Sara Baumgartner; Barbara Günther; Gerd Utermann; Dieter Kotzot
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.
American journal of medical genetics. Part A 2006;140(3):281-3.
2005: Andreas R Janecke; Hans Christian Hennies; Barbara Günther; Gabriele Gansl; Josef Smolle; Elisabeth M Messmer; Gerd Utermann; Olaf Rittinger
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
American journal of medical genetics. Part A 2005;133A(2):128-31.
2003: Barbara Günther; Andrea Steiner; Doris Nekahm-Heis; Klaus Albegger; Patrick Zorowka; Gerd Utermann; Andreas R Janecke
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
Human mutation 2003;22(2):180.
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: 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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