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Publications by Majid Fardaei

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

Related publications

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

BCS1L Gene Mutation Causing GRACILE Syndrome: Case Report

Intensive Care Medicine

English

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

English

Identification of a Novel Mutation in the Factor VIII Gene Causing Severe Haemophilia A

Molecular Biology

English

Novel Variant in the FGD1 Gene Causing Aarskog-Scott Syndrome

Experimental and Therapeutic Medicine

Cancer Research

English

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

Multidisciplinary

English

A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports

Endocrine Abstracts

English

Manitoba Aboriginal Kindred With Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB) Gene

American Journal of Human Genetics

English

Wolcott-Rallison Syndrome With Novel EIF2AK3 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English