Georg Klaus Hinkel

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 181 citations

Life Sciences, Genetics, Molecular Genetics +14

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 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Frank Tiecke, Stefanie Katzke, Patrick Booms et al. · European Journal of Human Genetics · 2001 · 158 citations

Life Sciences, Genetics, Molecular Genetics +15

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients

Nitin Sabherwal, Fiona Bangs, Rainer Roth et al. · Human Molecular Genetics · 2006 · 119 citations

Life Sciences, Genetics, Molecular Genetics +17