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Publications by Libby Couchon

Novel MPZ Mutations and Congenital Hypomyelinating Neuropathy

Neuromuscular Disorders

English

Related publications

Congenital Hypomyelinating Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry

English

Novel OTOF Mutations in Brazilian Patients With Auditory Neuropathy

Journal of Human Genetics

English

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Cardiovascular Medicine

English

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Genetics and Molecular Research

Molecular Biology

English

Congenital Sensory Neuropathy With Anhidrosis

English

Novel PITX2c Loss-Of-Function Mutations Associated With Complex Congenital Heart Disease

International Journal of Molecular Medicine

English

Peripheral Myelin Protein 2 – A Novel Cluster of Mutations Causing Charcot-Marie-Tooth Neuropathy

Orphanet Journal of Rare Diseases

English

Novel Mutations in CRYGC Are Associated With Congenital Cataracts in Chinese Families

Scientific Reports

Multidisciplinary

English

Two Novel NPHS1 Mutations in a Chinese Family With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English