Sefiani A - Search Results

1

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR. Marsman RF, et al. Among authors: sefiani a. J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. doi: 10.1016/j.jacc.2013.07.091. Epub 2013 Sep 25. J Am Coll Cardiol. 2014. PMID: 24076290 Free article.

2

Novel variant related to SATB2-associated syndrome.

Benyahya N, Amllal N, Elalaoui SC, El Alloussi M, Sefiani A, Lyahyai J. Benyahya N, et al. Among authors: sefiani a. Int J Dev Neurosci. 2024 Dec;84(8):1006-1009. doi: 10.1002/jdn.10379. Epub 2024 Sep 19. Int J Dev Neurosci. 2024. PMID: 39300047

3

[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.

4

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

Ratbi I, Génin E, Legendre M, Le Floch A, Costa C, Cherkaoui-Deqqaqi S, Goossens M, Sefiani A, Girodon E. Ratbi I, et al. Among authors: sefiani a. J Cyst Fibros. 2008 Sep;7(5):440-3. doi: 10.1016/j.jcf.2007.12.006. Epub 2008 Feb 1. J Cyst Fibros. 2008. PMID: 18243066 Free article.

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

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.

7

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

8

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

9

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

10

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.

Lyahyai J, Sbiti A, Barkat A, Ratbi I, Sefiani A. Lyahyai J, et al. Among authors: sefiani a. Genet Test Mol Biomarkers. 2012 Mar;16(3):215-8. doi: 10.1089/gtmb.2011.0149. Epub 2011 Sep 27. Genet Test Mol Biomarkers. 2012. PMID: 21950724

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

173 results

Search Page

Filters