Dorothea Bornholdt

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 · 296 citations

Mim 308050, Genetics, Molecular Biology +19

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Karl‐Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner et al. · Nature Genetics · 2007 · 280 citations

Developmental Biology, Signal Transduction, Tissue Development +9

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

Biology, Allelic Variant, Developmental Biology +11

Point Mutations in Human GLI3 Cause Greig Syndrome

Anja Wild, Martha Kalff-Suske, Andrea Vortkamp et al. · Human Molecular Genetics · 1997 · 173 citations · Full text

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle et al. · The American Journal of Human Genetics · 2009 · 148 citations · Full text

Inflammation, Protein Quality Control, Oxysterol +14