J Frézal

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

Genetics, Gene Characterization, Molecular Genetics +3

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 443 citations

Ocular Disease, Retina, Mendelian Disorder +5

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth et al. · Nature · 1990 · 397 citations

Genetic Analysis, Genetic Disorder, Genetics +6

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Robert G. Knowlton, Odile Cohen‐Haguenauer, N. Van Cong et al. · Nature · 1985 · 332 citations

Chromatin, Cytogenetics, Medicine +9

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

Judith Melki, P. Sheth, Sonia Abdelhak et al. · The Lancet · 1990 · 272 citations

Spinal Cord Injury, Genetic Disorder, Genetics +6