Concepedia

Dorothea Bornholdt

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Publications

20

Citations

1.9K

H-Index

17

Active since

1997

Affiliations

Philipps University of Marburg(Current)

University of Bonn

Ludwig-Maximilians-Universität München

Radboud University Medical Center

Universität Hamburg

Dorothea Bornholdt is an author at Philipps University of Marburg specializing in life sciences, genetics, and molecular genetics.

Publications per year

1997–2022

20

Publications

20

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

, , +17

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 · 281 citations

, , +11

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

, , +12

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

, , +17

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 · 153 citations · Full text

, , +7

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