Alfons Meindl

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, C Lenski et al. · The American Journal of Human Genetics · 2008 · 183 citations · Full text

Ube1 Are Associated, Rare Diseases, Rare Missense +8

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Thomas Deufel, Astrid Golla, David Iles et al. · PubMed · 1992 · 77 citations

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

Alfons Meindl, Bright Lorenz, Helene Achatz et al. · Human Molecular Genetics · 1995 · 62 citations

Genetics, Pathology, Molecular Genetics +20

Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant

Bernd Frank, Kari Hemminki, Barbara Wappenschmidt et al. · Carcinogenesis · 2005 · 62 citations · Full text

Breast Oncology, Genetics, Apoptosis +20

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

Tobias Ullrich, Katharina Seck, Volkmar Mueller et al. · Human Mutation · 2003 · 60 citations · Full text