Publications by authors named "Jean-Claude Barbot"

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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Juliette Quilichini, Sandrine Perol, Laurence Cuisset, Sarah Grotto, Corinne Fouveaut, Jean Claude Barbot

Am J Med Genet A· April 2024

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FXTAS: new insights and the need for revised diagnostic criteria.
Emmanuelle Apartis, Anne Blancher, Wassilios G Meissner, Lucie Guyant-Maréchal, David Maltête, Jean-Claude Barbot

Neurology· October 2012

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Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Yoann Saillour, Mireille Cossée, France Leturcq, Aurélie Vasson, Caroline Beugnet, Jean Claude Barbot

Hum Mutat· September 2008

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Revised spectrum of mutations in sarcoglycanopathies.
Madiha Trabelsi, Niloufar Kavian, Fatma Daoud, Virginie Commere, Nathalie Deburgrave, Jean Claude Barbot

Eur J Hum Genet· July 2008

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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, Stéphane Llense, Jean Claude Barbot, Dominique Récan

Hum Mutat· February 2007

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