Kraoua L - Search Results

1

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Jaouadi H, et al. Among authors: kraoua l. J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25. J Hum Genet. 2018. PMID: 30046096 Free article. Clinical Trial.

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

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

7

Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism.

Oueslati I, Kraoua L, Khiari K, Mrad R, Ben Abdallah N. Oueslati I, et al. Among authors: kraoua l. Ann Endocrinol (Paris). 2017 Feb;78(1):56-58. doi: 10.1016/j.ando.2016.09.003. Epub 2016 Dec 14. Ann Endocrinol (Paris). 2017. PMID: 27988022 No abstract available.

8

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

9

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

10

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R. El Younsi M, et al. Among authors: kraoua l. Eur J Med Genet. 2019 Sep;62(9):103550. doi: 10.1016/j.ejmg.2018.10.002. Epub 2018 Oct 10. Eur J Med Genet. 2019. PMID: 30315938

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