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Publications by Pierre A.F.A. van Neer

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

Related publications

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 Homozygous Mutation of GJB2—A New Variant of Keratitis-Ichthyosis-Deafness Syndrome?

JAAD Case Reports

English

Focal Palmoplantar Keratoderma With Joint Keratoses

English

Novel Mutations in Desmoglein 1: Focal Palmoplantar Keratoderma in Milder Phenotypes

British Journal of Dermatology

English

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

European Journal of Human Genetics

English

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

Human Genome Variation

Molecular Biology

English

Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome

English

Novel Mutation in the Per-Arnt-Sim Domain of KCNH2 Causes a Malignant Form of Long-Qt Syndrome

Cardiovascular Medicine

English

Rapid Detection of the 35delG Mutation in the GJB2 Gene in Childhood Deafness

Journal of Medical Screening

Occupational Health

English