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Publications by Wiam Smaili

A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports

English

Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients With Epilepsy: A Case Series

Journal of Medical Case Reports

English

Related publications

Report of the First Clinical Case of a Moroccan Kabuki Patient With a Novel MLL2 Mutation

Molecular Syndromology

English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English

A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics

English

A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report

Oncology Letters

Cancer Research

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

Endocrine Abstracts

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

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

Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

Journal of Zhejiang University: Science B

Molecular Biology

English