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Brigitte Chabrol

Showing results (61-70 of 147) with videos related to

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Molecular Genetics & Genomic Medicine|June 16, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathyMathieu Cerino, Chloé Di Meglio, Francesca Albertini, et al.
Human Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.
Bulletin De L'Academie Nationale De Medecine|January 26, 2006
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]Annie Barois, Michèle Mayer, Isabelle Desguerre, et al.
Neurogenetics|August 20, 2010
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22Eliane Chouery, Valérie Delague, Nadine Jalkh, et al.
Acta Neuropathologica Communications|April 25, 2014
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testAlexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndromeMathias Schwartz, Damien Sternberg, Sandra Whalen, et al.
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
Neuromuscular Disorders : NMD|November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibersGodelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Molecular Genetics and Metabolism|October 1, 2013
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrène Ceballos-Picot, Franck Augé, Rong Fu, et al.
Drug Testing and Analysis|January 31, 2020
Bromazepam intoxication in an infant: Contribution of hair and nail analysisAnne-Laure Pelissier-Alicot, Pascal Kintz, Alice Ameline, et al.
Pageof 15

Showing results (61-70 of 147) with videos related to

Sort By:
Pageof 15
Molecular Genetics & Genomic Medicine|June 16, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathyMathieu Cerino, Chloé Di Meglio, Francesca Albertini, et al.
Human Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.
Bulletin De L'Academie Nationale De Medecine|January 26, 2006
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]Annie Barois, Michèle Mayer, Isabelle Desguerre, et al.
Neurogenetics|August 20, 2010
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22Eliane Chouery, Valérie Delague, Nadine Jalkh, et al.
Acta Neuropathologica Communications|April 25, 2014
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testAlexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndromeMathias Schwartz, Damien Sternberg, Sandra Whalen, et al.
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
Neuromuscular Disorders : NMD|November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibersGodelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Molecular Genetics and Metabolism|October 1, 2013
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrène Ceballos-Picot, Franck Augé, Rong Fu, et al.
Drug Testing and Analysis|January 31, 2020
Bromazepam intoxication in an infant: Contribution of hair and nail analysisAnne-Laure Pelissier-Alicot, Pascal Kintz, Alice Ameline, et al.
Pageof 15