Beate Mitulla

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer et al. · European Journal of Medical Genetics · 2005 · 214 citations

Medicine, Ophthalmology, Radiology +8

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

Heike Starke, Angela Nietzel, Anja Weise et al. · Human Genetics · 2003 · 162 citations

Life Sciences, Genetics, Molecular Genetics +14

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind et al. · The American Journal of Human Genetics · 1999 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

“Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Christiane Zweier, Beate Albrecht, Beate Mitulla et al. · American Journal of Medical Genetics · 2002 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth et al. · American Journal of Medical Genetics Part A · 2005 · 87 citations

Medicine, Craniofacial Biology, Maxillofacial Pathology +13