Habiba Chaâbouni

Association of a Functional Deficit of the BK _Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation

Frédéric Laumonnier, Sébastien Roger, Pascaline Guérin et al. · American Journal of Psychiatry · 2006 · 166 citations · Full text

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Claire Redin, Stéphanie Le Gras, O. M'hamdi et al. · Journal of Medical Genetics · 2012 · 113 citations · Full text

A Homozygous Splice Mutation in the<i>HSF4</i>Gene Is Associated with an Autosomal Recessive Congenital Cataract

Nizar Smaoui, O. Beltaief, Sonia Benhamed et al. · Investigative Ophthalmology & Visual Science · 2004 · 99 citations

Molecular Genetic Analysis of Tunisian Patients with a Classic Form of 21-Hydroxylase Deficiency: Identification of Four Novel Mutations and High Prevalence of Q318X Mutation

Maher Kharrat, Véronique Tardy, Ridha Mrad et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 88 citations

Mendelian Disorder, Congenital Adrenal Hyperplasia, Cyp21 Active Gene +14

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

Leila Abaied, Médiha Trabelsi, M Chaâbouni et al. · American Journal of Medical Genetics Part A · 2009 · 77 citations