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Nature Genetics (3)
European Journal of Human Genetics (1)

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Showing 1–4 of 4 results

Advanced filters: Author: Heide Hellebrand Clear advanced filters

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

Alfons Meindl
Wolfgang Berger
Hans-Hilger Ropers
Research01 Oct 1992
Nature Genetics

Volume: 2, P: 139-143
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Alfons Meindl and colleagues report heterozygous germline mutations in RAD51C in families with breast and ovarian cancer. Mutations were found in 1.3% of 480 pedigrees with breast and ovarian cancer, but not in 620 pedigrees with breast cancer only.

Alfons Meindl
Heide Hellebrand
Helmut Hanenberg
Research18 Apr 2010
Nature Genetics

Volume: 42, P: 410-414
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Tim M. Strom
Gerald Nyakatura
Alfons Meindl
Research01 Jul 1998
Nature Genetics

Volume: 19, P: 260-263
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

Astrid Golla
Annette Jansson
Alfons Meindl
Research25 Apr 2002
European Journal of Human Genetics

Volume: 10, P: 217-221