Elalaoui SC - Search Results

1

Germline mosaicism in Rubinstein-Taybi syndrome.

Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A. Tajir M, et al. Among authors: elalaoui sc. Gene. 2013 Apr 15;518(2):476-8. doi: 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23. Gene. 2013. PMID: 23352794

2

Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.

Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A. Jaouad IC, et al. Among authors: elalaoui sc. J Biosoc Sci. 2009 Sep;41(5):575-81. doi: 10.1017/S0021932009003393. Epub 2009 May 12. J Biosoc Sci. 2009. PMID: 19433002

3

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A. Aboussair N, et al. Among authors: elalaoui sc. J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. doi: 10.1016/j.jfo.2009.11.009. Epub 2010 Jan 6. J Fr Ophtalmol. 2010. PMID: 20056295 French.

4

Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report.

Elalaoui SC, Ratbi I, Malih M, Bounasse M, Sefiani A. Elalaoui SC, et al. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1092-4. doi: 10.1016/j.ijporl.2010.06.011. Epub 2010 Jul 15. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20637513

5

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cavé H, Sefiani A. Elalaoui SC, et al. Am J Med Genet A. 2010 Nov;152A(11):2850-3. doi: 10.1002/ajmg.a.33685. Am J Med Genet A. 2010. PMID: 20979190

6

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A. Ratbi I, et al. Among authors: elalaoui sc. Turk J Pediatr. 2010 Sep-Oct;52(5):525-8. Turk J Pediatr. 2010. PMID: 21434539

7

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A. Doubaj Y, et al. Among authors: elalaoui sc. J Dermatol. 2012 Apr;39(4):382-4. doi: 10.1111/j.1346-8138.2011.01453.x. Epub 2011 Dec 29. J Dermatol. 2012. PMID: 22211393

8

Moroccan consanguineous family with Becker myotonia and review.

Ratbi I, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A. Ratbi I, et al. Among authors: elalaoui sc. Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. doi: 10.4103/0972-2327.91963. Ann Indian Acad Neurol. 2011. PMID: 22346025 Free PMC article.

9

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M. Tajir M, et al. Among authors: elalaoui sc. Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22766002

10

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. Doubaj Y, et al. Among authors: elalaoui sc. Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991222

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