Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, +25

European Journal of Human Genetics

SpermatogenesisBiologyDevelopmental BiologyCytogeneticsNatural Sciences +11

A novel <i>UBE3A</i> truncating mutation in large Tunisian Angelman syndrome pedigree

Leila Abaied, Médiha Trabelsi, M Chaâbouni, +6

American Journal of Medical Genetics Part A

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

Maher Kharrat, Saoussen Trabelsi, M Chaâbouni, +8

Clinical Genetics

Steroid 11β-Hydroxylase DeficiencyGeneticsGenetic EpidemiologyPathologyMolecular Genetics +18

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

Hager Jaouadi, Lilia Kraoua, Lilia Chaker, +7

Journal of Human Genetics

CardiomyopathyPediatric Heart DiseasePathologyPediatric CardiomyopathyCongenital Heart Defect +6

Constitutional <i>NRAS</i> mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

Lilia Kraoua, Hubert Journel, Philippe Bonnet, +5

American Journal of Medical Genetics Part A

&lt;b&gt;&lt;i&gt;TOP3B&lt;/i&gt;&lt;/b&gt;: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Marwa Daghsni, Saida Lahbib, Mohamed Kacem Ben Fradj, +9

Cytogenetic and Genome Research

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

Siham Chafai Elalaoui, Lilia Kraoua, Céline Liger, +3

American Journal of Medical Genetics Part A

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

Imen Rejeb, Lamia Ben Jemâa, Leila Abaied, +5

European Journal of Medical Genetics

Mendelian DisorderGenetic DisorderPqbp1 GeneGeneticsX-linked Mental Retardation +9

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals <i>ACTN2</i> mutation related to hypertrophic/dilated cardiomyopathy and a novel <i>LZTR1</i> variant associated with Noonan syndrome

Lilia Kraoua, Hager Jaouadi, Mohamed Allouche, +8

Molecular Genetics & Genomic Medicine

WDR73-related galloway mowat syndrome with collapsing glomerulopathy

Mariem El Younsi, Lilia Kraoua, Rym Meddeb, +7

European Journal of Medical Genetics

Glomerular DiseaseGlomerulonephritisMedicineKidney FailureRenal Pathology +7