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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S. Jaouadi H, et al. Among authors: levy n. Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041. Genet Res (Camb). 2019. PMID: 31030682 Free PMC article.
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M. Charfeddine C, et al. Among authors: levy n. J Hum Genet. 2020 Apr;65(4):397-410. doi: 10.1038/s10038-019-0711-4. Epub 2020 Jan 7. J Hum Genet. 2020. PMID: 31911611 Free article. Clinical Trial.
Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.
Nabouli I, Chikhaoui A, Othman H, Elouej S, Jones M, Lagarde A, Rekaya MB, Messaoud O, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Nabouli I, et al. Among authors: levy n. Front Genet. 2021 May 31;12:650639. doi: 10.3389/fgene.2021.650639. eCollection 2021. Front Genet. 2021. PMID: 34135938 Free PMC article.
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Chikhaoui A, et al. Among authors: levy n. Front Genet. 2019 Feb 14;10:111. doi: 10.3389/fgene.2019.00111. eCollection 2019. Front Genet. 2019. PMID: 30838033 Free PMC article.
FANCA Gene Mutations in North African Fanconi Anemia Patients.
Ben Haj Ali A, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre-Giovannoli A, Delague V, Lévy N, Bogliolo M, Surrallés J, Abdelhak S, Amouri A. Ben Haj Ali A, et al. Among authors: levy n. Front Genet. 2021 Feb 19;12:610050. doi: 10.3389/fgene.2021.610050. eCollection 2021. Front Genet. 2021. PMID: 33679882 Free PMC article.
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Ghedira N, et al. Among authors: levy n. BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8. BMC Pediatr. 2018. PMID: 30157809 Free PMC article.
1,141 results