Jean Claude Barbot

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Nathalie Deburgrave, Fatma Daoud, S. Llense et al. · Human Mutation · 2006 · 122 citations

Medicine, Genetics, Molecular Genetics +15

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

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

Yoann Saillour, Mireille Cossée, France Leturcq et al. · Human Mutation · 2008 · 49 citations

Life Sciences, Genetics, Molecular Genetics +17