Frank Majewski

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8

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 · 212 citations

Severity Scoring, Oculo-auriculo-vertebral Spectrum, Spinal Cord Injury +10

Mutations in <i>bone morphogenetic protein receptor 1B</i> cause brachydactyly type A2

Katarina Lehmann, Petra Seemann, Sigmar Stricker et al. · Proceedings of the National Academy of Sciences · 2003 · 164 citations · Full text

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Luciana Musante, Hans-Gerd Kehl, Frank Majewski et al. · European Journal of Human Genetics · 2003 · 159 citations · Full text

Mendelian Disorder, Cardio-facio-cutaneous Syndrome, Genetic Disorder +7

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations · Full text

Biology, Sotos Syndrome, Developmental Biology +9