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Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

Jang MA, Kim OH, Kim SW, Ki CS

No abstract available.
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The First Case of Concurrent Infective Endocarditis and Spondylitis Caused by Streptococcus tigurinus

Kim B, Huh HJ, Chung DR, Kim WS, Ki CS, Lee NY

No abstract available.
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Two Cases of Acute Lymphoblastic Leukemia with an e1a3 BCR-ABL1 Fusion Transcript

Shin SY, Cho JH, Kim HJ, Jang JH, Lee ST, Kim SH

No abstract available.
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Cryptic e1a2 BCR-ABL1 Fusion With Complex Chromosomal Abnormality in de novo Myelodysplastic Syndrome

Seo BY, Lee JH, Kang MG, Choi SY, Kim SH, Shin JH, Suh SP, Ryang DW, Shin MG

No abstract available.
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Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations

Kubuki Y, Shide K, Kameda T, Yamaji T, Sekine M, Kamiunten , Akizuki K, Shimoda H, Tahira Y, Nakamura K, Abe H, Miike T, Iwakiri H, Tahara Y, Sueta M, Hashimoto , Yamamoto S, Hasuike S, Hidaka T, Nagata K, Kitanaka A, Shimoda K

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Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

Jang MA, Lee T, Lee J, Cho EH, Ki CS

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including...
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Duffy Blood Group Genotyping in Thai Blood Donors

Nathalang , Intharanut K, Siriphanthong K, Nathalang , Kupatawintu P

BACKGROUND: Duffy (FY) blood group genotyping is important in transfusion medicine because Duffy alloantibodies are associated with delayed hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. In...
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