Jean Claude Kaplan

Revised spectrum of mutations in sarcoglycanopathies

Madiha Trabelsi, Niloufar Kavian, Fatma Daoud et al. · European Journal of Human Genetics · 2008 · 85 citations

Life Sciences, Genetics, Molecular Genetics +9

Ras activation in myelodysplastic syndromes: clinical and molecular study of the chronic phase of the disease

Cecilia Melani, A. Haliassos, Jean‐Claude Chomel et al. · British Journal of Haematology · 1990 · 31 citations

Medicine, Genetics, Hematology +17

Spectrum of CFTR mutations in Argentine cystic fibrosis patients

Lilien Chertkoff, Alejandra Visich, Thierry Bienvenu et al. · Clinical Genetics · 1997 · 26 citations

Life Sciences, Genetics, Molecular Genetics +17

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

Adriana Lasa, Fédérica Piccolo, Carles de Diego et al. · European Journal of Human Genetics · 1998 · 25 citations

Medicine, Genetics, Molecular Genetics +15

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Norma B. Romero, Pascale de Lonlay, S. Llense et al. · Neuromuscular Disorders · 2001 · 18 citations

Medicine, Genetics, Molecular Genetics +12