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Publications by Willy O Renier

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

Related publications

A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

American Journal of Medical Genetics, Part A

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English

First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

Neurology: Genetics

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 Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome

American Journal of Human Genetics

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

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts

English

The De Novo Missense Mutation N117S in Skeletal Muscle Α‑actinï¿½1 Causes a Mild Form of Congenital Nemaline Myopathy

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

The First De Novo Mutation of the Connexin 32 Gene Associated With X Linked Charcot-Marie-Tooth Disease.

Journal of Medical Genetics

English