Ulrike Gehlken

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

Phenotypical variability of expanded alleles in the TATA-binding protein gene

Christine Zühlke, Ulrike Gehlken, Yorck Hellenbroich et al. · Journal of Neurology · 2003 · 57 citations

Transcriptional Regulation, Allelic Variant, Genetic Disorder +11

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

Christine Zühlke, Matthias Spranger, S Spranger et al. · European Journal of Human Genetics · 2003 · 40 citations · Full text

Genetic Disorder, Natural Sciences, Genetics +7

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Christine Zühlke, Yorck Hellenbroich, Franziska Schaaff et al. · Human Genetics · 1997 · 14 citations

Mitotic Instability, Primer Extension Preamplification, Cell Division +5