Sefiani A - Search Results

1

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: sefiani a. 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.

2

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].

Ratbi I, Hajji S, Ouldim K, Aboussair N, Feldmann D, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Arch Pediatr. 2007 May;14(5):450-3. doi: 10.1016/j.arcped.2006.12.004. Epub 2007 Jan 16. Arch Pediatr. 2007. PMID: 17229560 French.

3

Omenn syndrome with mutation in RAG1 gene.

Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A. Jaouad IC, et al. Among authors: sefiani a. Indian J Pediatr. 2008 Sep;75(9):944-6. doi: 10.1007/s12098-008-0197-0. Epub 2008 Nov 15. Indian J Pediatr. 2008. PMID: 19011808

4

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: sefiani a. J Biosoc Sci. 2009 Sep;41(5):575-81. doi: 10.1017/S0021932009003393. Epub 2009 May 12. J Biosoc Sci. 2009. PMID: 19433002

5

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Clin Rheumatol. 2010 Jan;29(1):119-21. doi: 10.1007/s10067-009-1283-z. Epub 2009 Oct 1. Clin Rheumatol. 2010. PMID: 19795179

6

[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: sefiani a. 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.

7

The Moroccan human mutation database.

Ratbi I, Gati AE, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Indian J Hum Genet. 2008 Sep;14(3):106-7. doi: 10.4103/0971-6866.45004. Indian J Hum Genet. 2008. PMID: 20300306 Free PMC article. No abstract available.

8

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. Among authors: sefiani a. 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

9

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. Among authors: sefiani a. 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

10

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: sefiani a. Turk J Pediatr. 2010 Sep-Oct;52(5):525-8. Turk J Pediatr. 2010. PMID: 21434539

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