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 · 383 citations · Full text

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Yael Shinar, Laura Obici, Ivona Aksentijevich et al. · Annals of the Rheumatic Diseases · 2012 · 196 citations · Full text

Recurrent Bouts, Hrf Genetic Testing, Disease Susceptibility +15

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 · 188 citations · Full text

Smith-lemli-opitz Syndrome, Mendelian Disorder, Genetic Disorder +9

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 · 160 citations · Full text

Molecular Diagnosis, Genetics, Diagnosis +16

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