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Publications by William A. Gahl

A Novel Missense Mutation (G43S) in the Switch I Region of Rab27A Causing Griscelli Syndrome

Molecular Genetics and Metabolism

Molecular Biology

English

Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene

Archives of Dermatology

English

Related publications

Novel 47.5-Kb Deletion in RAB27A Results in Severe Griscelli Syndrome Type 2

Molecular Genetics and Metabolism

Molecular Biology

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion

English

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness

American Journal of Pathology

Forensic Medicine

English

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences

English

The Novel Missense Mutation Met48Lys in FKBP22 Changes Its Structure and Functions

Scientific Reports

Multidisciplinary

English