Céline Saquet

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions

Catherine Gallou, Dominique Chauveau, Dominique Joly et al. · Human Mutation · 2004 · 88 citations

Vhl Gene, Urology, Renal Function +14

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Sylvie Tuffery‐Giraud, Céline Saquet, Sylvie Chambert et al. · Neuromuscular Disorders · 2004 · 42 citations

National Referral Centre, Urology, Muscle Biopsy +7

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

Sylvie Tuffery‐Giraud, Céline Saquet, Delphine Thorel et al. · European Journal of Human Genetics · 2005 · 42 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

First determination of the incidence of the unique <i>TOR1A</i> gene mutation, c.907delGAG, in a Mediterranean population

Melissa Yana Frédéric, Estelle Lucarz, Christine Monino et al. · Movement Disorders · 2007 · 28 citations