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Publications by Hadhami Ben Turkia

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology

Forensic Medicine

English

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A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report

BMC Medical Genetics

English

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

Multidisciplinary

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A Second Leaky Splice-Site Mutation in the Spastin Gene

American Journal of Human Genetics

English

Novel Hereditary Spherocytosis-Associated Splice Site Mutation in the ANK1 Gene Caused by Parental Gonosomal Mosaicism

English

Corrigendum: Sarcoidosis Is Associated With a Truncating Splice Site Mutation in the Gene BTNL2

Nature Genetics

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Novel NPHS1 Splice Site Mutations in a Chinese Child With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English

Wolcott-Rallison Syndrome With Novel EIF2AK3 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation

Scientific Reports

Multidisciplinary

English