Dietmar Müller

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)

Katrin Hoffmann, Christine Karin Dreger, Ada L. Olins et al. · Nature Genetics · 2002 · 346 citations

Lamin B Receptor, Granulocyte, Cell Signaling +7

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

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Katja‐Martina Eckl, Rotem Tidhar, Holger Thiele et al. · Journal of Investigative Dermatology · 2013 · 163 citations · Full text

Skin Development, Developmental Biology, Pathology +3

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang et al. · Nature Genetics · 2008 · 156 citations · Full text

Biology, Gerodermia Osteodysplastica, Somatic Variant +8

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

Martha Kalff-Suske, Anja Wild, Juliane Topp et al. · Human Molecular Genetics · 1999 · 147 citations · Full text