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Page 1
Array comparative genomic hybridization in global developmental delay.
Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Shevell MI, et al. Among authors: srour m. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1101-8. doi: 10.1002/ajmg.b.30730. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18361433
DOK7 mutations presenting as a proximal myopathy in French Canadians.
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. Srour M, et al. Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610155
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Among authors: srour m. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium; Maranda B, Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22425360 Free PMC article.
274 results