Gabriele Wildhardt

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Gabriele Wildhardt, Birgit Zirn, Luitgard Graul‐Neumann et al. · BMJ Open · 2013 · 48 citations · Full text

Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation

Guntram Borck, Christian Roth, Ursula Martiné et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 33 citations · Full text

Founder Mutation, Mendelian Disorder, Turkish Origin +13

Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect

Guntram Borck, A. Kemal Topaloğlu, Eckhard Korsch et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 31 citations

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

Daniela Steinberger, Jutta Trübenbach, Birgit Zirn et al. · Neurogenetics · 2006 · 25 citations

Molecular Neuroscience, Deletion Analysis, Clinical Neuroscience +8

Recurrent Granular Dystrophy of the Cornea

Martine Frising, Gabriele Wildhardt, L. Frisch et al. · Cornea · 2006 · 18 citations