Concepedia

Rafaëlle Bernard

RB

38

Publications

4.3K

Citations

24

H-Index

1979

Active since

Affiliations

Hôpital de la Timone(Current)

Inserm

Aix-Marseille Université

Génétique Médicale & Génomique Fonctionelle

Centre National de la Recherche Scientifique

Rafaëlle Bernard is an author at Hôpital de la Timone specializing in medicine, genetics, and pathology.

ORCID

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Publications per year

1979–2023

38

Publications

38

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.4K citations

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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 364 citations · Full text

, , +26

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 364 citations · Full text

, , +17

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli et al. · Human Molecular Genetics · 2005 · 290 citations · Full text

Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

Karine Nguyen, Guillaume Bassez, Martin Krahn et al. · Archives of Neurology · 2007 · 262 citations

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