Patrick Calvas

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh et al. · Nature Genetics · 2004 · 518 citations · Full text

Yeast Rna Helicase, Natural Sciences, Genetics +7

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.

M.-C. Vincent, Florian Heitz, Jean-Philippe Tricoire et al. · PubMed · 1999 · 51 citations

Genetics, Genetic Epidemiology, Pathology +19

Confirmation of <i>RAX</i> gene involvement in human anophthalmia

Léopoldine Lequeux, Marlène Rio, Adeline Vigouroux et al. · Clinical Genetics · 2008 · 43 citations · Full text

Gene Therapies, Premature Stop Codon, Developmental Biology +11

Fabry’s Disease: Heterozygous Form of Different Expression in Two Monozygous Twin Sisters

M.C. Marguery, Flavio Giordano, M Parant et al. · Dermatology · 1993 · 28 citations

Normal Enzyme Activity, Genetics, Vascular Malformation +17