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Publications by Hyeeun Shin

A Novel PANK2 Gene Mutation With Sudden-Onset Dystonia

Canadian Journal of Neurological Sciences

English

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A Novel Heterozygous ANO3 Mutation With Basal Ganglia Dysfunction in a Patient With Adult-Onset Isolated Segmental Dystonia

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Novel Homozygous PANK2 Mutation Identified in a Consanguineous Chinese Pedigree With Pantothenate Kinase-Associated Neurodegeneration

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A Novel Mutation of the Arylsulfatase a Gene in Late-Onset Metachromatic Leukodystrophy

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

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A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

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A Novel POLG Gene Mutation in a Patient With SANDO

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A Family With a New Elastin Gene Mutation: Broad Clinical Spectrum, Including Sudden Cardiac Death

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EIF2AK3 Novel Mutation in a Child With Early-Onset Diabetes Mellitus, a Case Report

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Wolcott-Rallison Syndrome With Novel EIF2AK3 Gene Mutation

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