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Ja Hyun Jang

Sungkyunkwan University

5

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29

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Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.

2022 Korean Journal of Laboratory Medicine
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A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy

2021 Neurological Sciences
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Hereditary gene mutations in Korean patients with isolated erythrocytosis

2014 Annals of Hematology
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A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly

2012 Yonsei Medical Journal
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Establishment of reference intervals for von Willebrand factor antigen and eight coagulation factors in a Korean population following the Clinical and Laboratory Standards Institute guidelines.

2010 Blood Coagulation & Fibrinolysis
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