Concepedia
Statistics
Publications
3
Citations
196
H-Index
Active since
2009
Affiliations
Inserm(Current)
Hôpital Bichat-Claude-Bernard
Assistance Publique – Hôpitaux de Paris
Délégation Paris 5
Université Paris Cité
M. Chelbi is an author at Inserm specializing in human genetics, genetics, and life sciences.
Publications per year
2009–2012
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 140 citations · Full text
Life Sciences, Genetics, Neuroscience +10
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
Sandrine Vuillaumier‐Barrot, Susana Quijano-Roy, C. Bouchet-Séraphin et al. · Neuromuscular Disorders · 2009 · 41 citations
Life Sciences, Genetics, Molecular Genetics +4
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · Neuromuscular Disorders · 2011 · 15 citations
Life Sciences, Genetics, Molecular Genetics +10
1–3 of 3