Juergen Kohlhase

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson et al. · PLoS ONE · 2016 · 83 citations · Full text

Biology, Genetic Analysis, Intragenic Pax6 Mutations +15

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier et al. · Human Mutation · 2010 · 69 citations · Full text

Cleidocranial Dysplasia, Ccd Patients, Mendelian Disorder +13

Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects

Winn S. Surka, Juergen Kohlhase, Cindy Neunert et al. · American Journal of Medical Genetics · 2001 · 41 citations

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

J. Vogt, Juergen Kohlhase · Human Mutation · 2011 · 36 citations · Full text

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and <i>B3GALTL</i> mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Katharina Schoner, Juergen Kohlhase, Annette Müller et al. · Prenatal Diagnosis · 2012 · 33 citations