Srour M - Search Results

1

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Mirchi A, et al. Among authors: srour m. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9. Pediatr Neurol. 2018. PMID: 29859719 Free article.

2

Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay.

Srour M, Mazer B, Shevell MI. Srour M, et al. Pediatrics. 2006 Jul;118(1):139-45. doi: 10.1542/peds.2005-2702. Pediatrics. 2006. PMID: 16818559

3

Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.

Srour M, Mazer B, Shevell MI. Srour M, et al. J Child Neurol. 2006 Apr;21(4):287-90. doi: 10.1177/08830738060210042201. J Child Neurol. 2006. PMID: 16900922

4

Screening for developmental delay in the setting of a community pediatric clinic: a prospective assessment of parent-report questionnaires.

Rydz D, Srour M, Oskoui M, Marget N, Shiller M, Birnbaum R, Majnemer A, Shevell MI. Rydz D, et al. Among authors: srour m. Pediatrics. 2006 Oct;118(4):e1178-86. doi: 10.1542/peds.2006-0466. Pediatrics. 2006. PMID: 17015506

5

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

6

An instructive case of an 8-year-old boy with intellectual disability.

Srour M, Bejjani BA, Rorem EA, Hall N, Shaffer LG, Shevell MI. Srour M, et al. Semin Pediatr Neurol. 2008 Dec;15(4):154-5; discussion 155-6. doi: 10.1016/j.spen.2008.09.002. Semin Pediatr Neurol. 2008. PMID: 19073314

7

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

8

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium; Rouleau GA, Majewski J, Michaud JL. Srour M, et al. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439

9

Genetics and the investigation of developmental delay/intellectual disability.

Srour M, Shevell M. Srour M, et al. Arch Dis Child. 2014 Apr;99(4):386-9. doi: 10.1136/archdischild-2013-304063. Epub 2013 Dec 16. Arch Dis Child. 2014. PMID: 24344174 Review.

10

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium; Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B. Srour M, et al. Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16. Muscle Nerve. 2014. PMID: 24616084

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