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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL. Piton A, et al. Among authors: faivre l. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169519 Free PMC article.
Unique survival in chrondrodysplasia-hermaphrodism syndrome.
Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417. Am J Med Genet A. 2005. PMID: 15578577 No abstract available.
Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition.
Thauvin-Robinet C, Faivre L, Barbier ML, Chevret L, Bourgeois J, Netter JC, Grimaldi M, Geneviève D, Ogier de Baulny H, Huet F, Saudubray JM, Gouyon JB. Thauvin-Robinet C, et al. Among authors: faivre l. J Inherit Metab Dis. 2004;27(5):700-4. doi: 10.1023/b:boli.0000043017.90837.93. J Inherit Metab Dis. 2004. PMID: 15669689 No abstract available.
760 results