Kaplan Jc

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Fédérica Piccolo, Steven L. Roberds, Marc Jeanpierre et al. · Nature Genetics · 1995 · 191 citations

Medicine, Neurology, Neuromuscular Disorders +3

Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II

LM Vieira, Kaplan Jc, A Kahn et al. · Blood · 1995 · 58 citations

Life Sciences, Genetics, Molecular Genetics +9

Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients

D. Hubert, Thierry Bienvenu, N. Desmazes-Dufeu et al. · European Respiratory Journal · 1996 · 50 citations · Full text

Life Sciences, Genetics, Physiology +17

Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis

Xavier Puéchal, Isabelle Fajac, Thierry Bienvenu et al. · European Respiratory Journal · 1999 · 37 citations

Life Sciences, Genetics, Internal Medicine +13

Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.

Michel Fardeau, K Matsumura, F.M.S. Tomé et al. · PubMed · 1993 · 35 citations

Medicine, Genetics, Molecular Biology +13