Kraoua L - Search Results

1

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H. Rejeb I, et al. Among authors: kraoua l. Eur J Med Genet. 2011 May-Jun;54(3):241-6. doi: 10.1016/j.ejmg.2011.01.010. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315190

2

[Genetic analysis of Turner syndrome: 89 cases in Tunisia].

Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I, M'rad R, Ben Jemaa L, Maâzoul F, Chaabouni H. Kammoun I, et al. Among authors: kraoua l. Ann Endocrinol (Paris). 2008 Nov;69(5):440-5. doi: 10.1016/j.ando.2008.01.007. Epub 2008 Jun 9. Ann Endocrinol (Paris). 2008. PMID: 18541220 French.

3

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H. Abaied L, et al. Among authors: kraoua l. Am J Med Genet A. 2010 Jan;152A(1):141-6. doi: 10.1002/ajmg.a.33179. Am J Med Genet A. 2010. PMID: 20034088

4

FOXL2 mutations in Tunisian patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Kraoua L, Chaabouni M, Trabelsi M, Chelly I, Maazoul F, Ben Abdallah N, Boukthir S, Barsaoui S, Chaabouni H, M'rad R. Kraoua L, et al. Clin Genet. 2010 Jun;77(6):601-3. doi: 10.1111/j.1399-0004.2010.01389.x. Epub 2010 Mar 5. Clin Genet. 2010. PMID: 20236120 No abstract available.

5

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H. Kharrat M, et al. Among authors: kraoua l. Clin Genet. 2010 Oct;78(4):398-401. doi: 10.1111/j.1399-0004.2010.01403.x. Clin Genet. 2010. PMID: 20331679

6

Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, Maazoul F, Liehr T, Chaabouni H. Kraoua L, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50. doi: 10.1016/j.ejmg.2011.04.007. Epub 2011 May 6. Eur J Med Genet. 2011. PMID: 21621018

7

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.

Trabelsi M, Chelly I, Maazoul F, Chaabouni M, Ouertani I, Kraoua L, Khemakhem L, Mrad R, Chaabouni H. Trabelsi M, et al. Among authors: kraoua l. Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8. Eur J Med Genet. 2013. PMID: 23142735

8

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.

Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N. Kraoua I, et al. Among authors: kraoua l. Neuropediatrics. 2013 Oct;44(5):281-5. doi: 10.1055/s-0033-1338133. Epub 2013 Apr 6. Neuropediatrics. 2013. PMID: 23564319 Review.

9

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, Chelly I, Benoit V, Besbes G, Mrad R. Trabelsi M, et al. Among authors: kraoua l. Int J Pediatr Otorhinolaryngol. 2017 Dec;103:14-19. doi: 10.1016/j.ijporl.2017.09.029. Epub 2017 Sep 28. Int J Pediatr Otorhinolaryngol. 2017. PMID: 29224756

10

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Daghsni M, Lahbib S, Fradj M, Sayeb M, Kelmemi W, Kraoua L, Kchaou M, Maazoul F, Echebbi S, Ben Ali N, Abdelhak S, M'rad R. Daghsni M, et al. Among authors: kraoua l. Cytogenet Genome Res. 2018;154(1):1-5. doi: 10.1159/000486945. Epub 2018 Feb 28. Cytogenet Genome Res. 2018. PMID: 29490292

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