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Publications by Catherine Duncombe-Poulet

Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Related publications

Oculocutaneous Albinism Type 1

English

Molecular Basis of Oculocutaneous Albinism Type 1 in Lebanese Patients

Journal of Human Genetics

English

Minimal Pigment Oculocutaneous Albinism Type 1

English

Oculocutaneous Albinism Type 1A

English

Oculocutaneous Albinism Type 6

English

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

American Journal of Human Genetics

English

Mutations in the Human Orthologue of the Mouse Underwhite Gene (Uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

American Journal of Human Genetics

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene

American Journal of Hematology

English