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Publications by Diane W. Cox

Erratum: Corrigendum: The Wilson Disease Gene: Spectrum of Mutations and Their Consequences

Nature Genetics

English

Apa I Polymorphism of a Human Immunoglobin VH3 Subclass Locus

Nucleic Acids Research

English

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Spectrum of Mutations in the Batten Disease Gene, CLN3

American Journal of Human Genetics

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Investigating Functional Consequences of Novel Disease-Causing Mutations of CLCN7 Gene

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Identification of Novel Mutations and the Three Most Common Mutations in the Human ATP7B Gene of Korean Patients With Wilson Disease

Genetics in Medicine

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The Clinical Spectrum of Thyrotropin Receptor Gene (TSHR) Mutations

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Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene

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Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients With Acid Sphingomyelinase Deficient Niemann-Pick Disease

American Journal of Medical Genetics, Part A

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Phenotypic Spectrum of the Tubulin-Related Disorders and Functional Implications of Disease-Causing Mutations

Current Opinion in Genetics and Development

Developmental Biology

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Clinical and Genetic Characteristics of New Allele Variants of the Mowat–Wilson Syndrome Caused by ZEB2 Gene Mutations

Nervno-Myshechnye Bolezni

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Association of Dopamine Receptor Gene Polymorphisms With the Clinical Course of Wilson Disease

Internal Medicine

Molecular Biology

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