L. Ben Jemaa

发表

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

I. Touitou, N. Smaoui, H. Chaabouni, 2007, Seminars in arthritis and rheumatism.

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

I. Ouertani, H. Chaabouni, R. M’rad, 2008, Annales d'endocrinologie.

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

J. Chelly, H. Chaabouni, Y. Saillour, 2011, European journal of medical genetics.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

C. Rouzier, L. Ben Jemaa, H. Jilani, 2022, Ophthalmic genetics.

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis: The first Tunisian case confirmed by next-generation sequencing.

S. Bekri, S. Ben slama, L. Ben Jemaa, 2020, Clinica chimica acta; international journal of clinical chemistry.

Y chromosome microdeletions in Tunisian infertile males.

H. Chaabouni, M. Châabouni, F. Maazoul, 2008, Pathologie-biologie.

De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

H. Daoud, H. Chaabouni, R. Zemni, 2008, Journal of biomedicine & biotechnology.

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

T. Liehr, I. Ouertani, H. Chaabouni, 2011, European journal of medical genetics.

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

L. B. Jemaa, Y. Morel, S. Barsaoui, 2010, Clinical genetics.

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.

T. Attié-Bitach, I. Turki, I. Ouertani, 2009, European journal of medical genetics.