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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.
Hum Mutat. 2012.
PMID: 22396310
Free PMC article.
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.
Quartier A, Chatrousse L, Redin C, Keime C, Haumesser N, Maglott-Roth A, Brino L, Le Gras S, Benchoua A, Mandel JL, Piton A.
Quartier A, et al. Among authors: haumesser n.
Biol Psychiatry. 2018 Aug 15;84(4):239-252. doi: 10.1016/j.biopsych.2018.01.002. Epub 2018 Jan 9.
Biol Psychiatry. 2018.
PMID: 29428674
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A.
Redin C, et al. Among authors: haumesser n.
J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.
J Med Genet. 2014.
PMID: 25167861
Free PMC article.
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