Marie‐Antoinette Voelckel

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

François Rousseau, Dominique Heitz, Valérie Biancalana et al. · New England Journal of Medicine · 1991 · 641 citations

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 192 citations

Artificial Dmd Protein, Genetics, Molecular Biology +16

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Samantha J.L. Knight, Marie‐Antoinette Voelckel, Mark C. Hirst et al. · PubMed · 1994 · 119 citations

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Anne Moncla, Perrine Malzac, Marie‐Antoinette Voelckel et al. · European Journal of Human Genetics · 1999 · 106 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Anne Moncla, Perrine Malzac, Marie-Odile Livet et al. · Journal of Medical Genetics · 1999 · 101 citations · Full text

Developmental Anomaly, Clinical Disorders, Mendelian Disorder +15