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Publications by Sa-Yoon Kang

Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease

European Journal of Human Genetics

English

Thoracic Endovascular Repair of Spinal Cord Infarction Resulting From Impending Rupture of the Thoracic Aortic Aneurysm

Journal of Neurocritical Care

English

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A Nonsense Mutation (E1978X) in the ATM Gene Is Associated With Breast Cancer

Breast Cancer Research and Treatment

Cancer Research

English

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

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Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

International Journal of Medical Sciences

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A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family

Our Dermatology Online

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GFAP Expression as an Indicator of Disease Severity in Mouse Models of Alexander Disease

English

Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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A Novel Mutation in CELSR1 Is Associated With Hereditary Lymphedema

Computer Networks

Developmental Neuroscience

English

Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

Neurobiology of Disease

English

Identification of a Nonsense Mutation in the PAX9 Gene in Molar Oligodontia

European Journal of Human Genetics

English