Helga Rehder

BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

Stephan A. Hahn, B. Greenhalf, I. Ellis et al. · JNCI Journal of the National Cancer Institute · 2003 · 479 citations · Full text

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 270 citations

Protein Quality Control, Autoimmune Disease, Genetics +7

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

Vera M. Kalscheuer, Edwin C.M. Mariman, Marga Schepens et al. · Nature Genetics · 1993 · 240 citations

Signal Transduction, Growth Hormone, Human Growth +8

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

Bárbara Fritz, Christian Hallermann, J. Olert et al. · European Journal of Human Genetics · 2001 · 139 citations · Full text

Abortion, Cytogenetics, Genetics +11

Down's syndrome in the male. Reproductive pathology and meiotic studies

R. Johannisson, A. Gropp, Heinz Winking et al. · Human Genetics · 1983 · 125 citations

Down Syndrome, Infertility, Andrology +12