Hartmut Engel

Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome

Arne K�nig, Rudolf Happle, Dorothea Bornholdt et al. · American Journal of Medical Genetics · 2000 · 298 citations

Life Sciences, Genetics, Molecular Genetics +17

The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott et al. · The American Journal of Human Genetics · 1999 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

Martha Kalff-Suske, Anja Wild, Juliane Topp et al. · Human Molecular Genetics · 1999 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits

Christian Derst, Christine Karschin, Erhard Wischmeyer et al. · FEBS Letters · 2001 · 63 citations

Life Sciences, Genetics, Molecular Genetics +17

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3

Walter Lisch, Andreas Büttner, Frank Oeffner et al. · American Journal of Ophthalmology · 2000 · 57 citations

Medicine, Genetics, Molecular Genetics +14