Martina Witsch‐Baumgartner

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Barbara U. Fitzky, Martina Witsch‐Baumgartner, Martin Erdel et al. · Proceedings of the National Academy of Sciences · 1998 · 388 citations

Life Sciences, Genetics, Molecular Genetics +17

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Yael Shinar, Laura Obici, Ivona Aksentijevich et al. · Annals of the Rheumatic Diseases · 2012 · 198 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Martina Witsch‐Baumgartner, Barbara U. Fitzky, M. Ogorelkova et al. · The American Journal of Human Genetics · 2000 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik‐Jan Kamsteeg, Claudio Catalli, Jens Michael Hertz et al. · European Journal of Human Genetics · 2012 · 163 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma

Judith Löffler‐Ragg, Martina Witsch‐Baumgartner, Alexandar Tzankov et al. · European Journal of Cancer · 2005 · 156 citations · Full text

Medicine, Molecular Genetics, Oncology +9