학술논문

1 . Academic Journal

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features

저자: by Kim, Jin Kyung; Ki, Chang Seok; Kim, Young Hwan; Jeong, Ji Eun; Lee, Nawon.
소스: Annals of Pediatric Endocrinology & Metabolism. 28(Suppl 1):S17-S19

7 . Academic Journal

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

저자: by Park, Jong Eun; Yun, Sun Ae; Roh, Eun Youn; Yoon, Jong Hyun; Shin, Sue, et al.
소스: Annals of Laboratory Medicine. 40(4):326-330

7 . Academic Journal

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience

저자: by Kwon, Won Kyung; Choi, SooIn; Kim, Hee jin; Huh, Hee Jae; Kang, Ji Man, et al.
소스: Allergy, Asthma & Immunology Research. 12(2):292-305

7 . Academic Journal

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

저자: by Kim, Young Eun; Ki, Chang Seok; Jang, Mi Ae.
소스: Annals of Laboratory Medicine. 39(5):421-429

5 . Academic Journal

Mycobacterium shimoidei Pulmonary Disease: The First Case in Korea

저자: by Shin, Sunghwan; Yoo, In Young; Jhun, Byung Woo; Koh, Won Jung; Ki, Chang Seok, et al.
소스: Laboratory Medicine Online. 9(3):166-170

7 . Academic Journal

A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia

저자: by Park, Hwanhee; Park, Min Seung; Ki, Chang Seok; Cho, Joongbum; Lee, Jeehun, et al.
소스: Allergy, Asthma & Respiratory Disease. 7(3):158-164

7 . Academic Journal

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

저자: by Han, Kyoung Hee; Park, Jong Eun; Ki, Chang Seok.
소스: Korean Journal of Pediatrics. 62(5):193-197

5 . Academic Journal

A Case of Urinary Tract Infection Caused by the Emerging Uropathogen Actinotignum schaalii

저자: by Kwon, Won Kyung; Song, Dong Joon; Huh, Hee Jae; Park, Se Hoon; Ki, Chang Seok, et al.
소스: Laboratory Medicine Online. 9(2):94-98

7 . Academic Journal

A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

저자: by Shin, Eun Hae; Lim, Dong Hui; Kim, Yoon Duck; Woo, Kyung In; Han, Jisang, et al.
소스: Journal of the Korean Ophthalmological Society. 60(4):380-386

7 . Academic Journal

Comparative Evaluation Between the RealStar Pneumocystis jirovecii PCR Kit and the AmpliSens Pneumocystis jirovecii (carinii)-FRT PCR Kit for Detecting P. jirovecii in Non-HIV Immunocompromised Patients

저자: by Huh, Hee Jae; Lim, Kyoung Ree; Ki, Chang Seok; Huh, Kyungmin; Shim, Hyang Jin, et al.
소스: Annals of Laboratory Medicine. 39(2):176-182

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