Judith Löffler

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

Judith Löffler, Doris Nekahm, Almut Hirst-Stadlmann et al. · European Journal of Human Genetics · 2001 · 84 citations · Full text

Sensorineural Hearing Loss, Cx26 Mutations, Audiology +5

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria

Andreas Janecke, Almut Hirst-Stadlmann, Barbara Günther et al. · Human Genetics · 2002 · 74 citations

Genetic Disorder, Genetics, Audiology +10

Mutations in the human<i>DHCR7</i>gene

Martina Witsch‐Baumgartner, Judith Löffler, Gerd Utermann · Human Mutation · 2001 · 73 citations

Metabolic Syndrome, Cholesterol Biosynthesis, Smith-lemli-opitz Syndrome +13

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Hans‐Christoph Duba, Martin Erdel, Judith Löffler et al. · Journal of Medical Genetics · 1997 · 37 citations · Full text

Cytogenetics, Genetics, Pathology +16

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

Andreas Janecke, Doris Nekahm, Judith Löffler et al. · Human Genetics · 2001 · 35 citations

Developmental Biology, Genetics, Audiology +6