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Habiba Chaabouni

University of Paris

61

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1800

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A Novel Nonsense Mutation p.L9X in the SRY Gene Causes Complete Gonadal Dysgenesis in a 46,XY Female Patient

2016 Journal of Genetic Syndromes & Gene Therapy
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Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy

2013 European Journal of Medical Genetics
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Cryptic Rearrangements in Idiopathic Intellectual Disability Diagnosed by Molecular Cytogenetic Analysis

2012 International Journal of Human Genetics
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Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.

2011 BMC Ophthalmology
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Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

2011 Investigative Ophthalmology & Visual Science
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Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.

2010 La Tunisie médicale
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Subtelomeric Microduplications in Three Sisters with Moderate Mental Retardation

2010 Biochemical Genetics
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Exploring the 7p22.1 Chromosome as a Candidate Region for Autism

2010 BioMed Research International
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A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

2010 American Journal of Medical Genetics Part A
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ECHOGRAPHIE DU PREMIER TRIMESTRE: UN OUTIL DE DÉPISTAGE PRÉCOCE DES MALFORMATIONS FŒTALES ET DES ANOMALIES CHROMOSOMIQUES

2009
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