J. Kunze

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

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the <i>Splotch</i> mouse

M. Tassabehjl, Valerie Newton, Kate E Leverton et al. · Human Molecular Genetics · 1994 · 102 citations

AT‐related disorder

R.‐D. Wegner, Marc J. Metzger, F. Hanefeld et al. · Clinical Genetics · 1988 · 70 citations

Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locus

Simone M. Sauter, Wolfgang Engel, Luitgard M. Neumann et al. · Human Mutation · 2003 · 64 citations · Full text

Progressive Spasticity, Mendelian Disorder, Late Onset Forms +13

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the <i>PKHD1</i> gene

Klaus Zerres, Jan Senderek, Sabine Rudnik‐Schöneborn et al. · Clinical Genetics · 2004 · 55 citations