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Publications by G S Charames

A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

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A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia

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

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

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A Second Leaky Splice-Site Mutation in the Spastin Gene

American Journal of Human Genetics

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

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APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation

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

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A Mutation Hotspot at the P14ARF Splice Site

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

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