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Showing results 1 to 19 of 19

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2006	Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes Kim, Seok Hwan; Kim, Ji Yeon; Kim, Dong Myung; Ko, Hyun Su; Kim, Sung Yeun; Yoo, Taiwoo; Hwang, Seung Sik; Park, Sung Sup Mol Vis 2006; 12:1016-21	view file link
2007	P2X7 receptor polymorphism and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation Lee, Kyung-Hun; Park, Sung Sup; Kim, Inho; Kim, Jin Hee; Ra, Eun Kyung; Yoon, Sung-Soo; Hong, Yun-Chul; Park, Seonyang; Kim, Byoung Kook Haematologica 2007;92:651-7	view file DOI
2007	Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants Ko, Jae Sung; Song, Jung Han; Park, Sung Sup; Seo, Jeong Kee J Korean Med Sci 2007; 22: 952-6	view file link
2007	Polymorphisms of the methylenetetrahydrofolate reductase gene and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation Kim, Inho; Lee, Kyung-Hun; Kim, Jin Hee; Ra, Eun Kyung; Yoon, Sung-Soo; Hong, Yun-Chul; Park, Sung Sup; Kim, Chul Soo; Park, Seonyang; Kim, Byoung Kook Ann Hematol 86:41-48	link
2007	레버 선천성 흑암시의 분자유전학적 연구 성문우	link
2007-04	Glutathione S-transferase A1 polymorphisms and acute graft-vs.-host disease in HLA-matched sibling allogeneic hematopoietic stem cell transplantation Kim, Inho; Keam, Bhumsuk; Lee, Kyung-Hun; Kim, Jin Hee; Oh, So Yeon; Ra, Eun Kyung; Yoon, Sung-Soo; Park, Sung Sup; Kim, Chul Soo; Park, Seonyang; Hong, Yun-Chul; Kim, Byoung Kook Clin Transplant. 2007 Mar-Apr;21(2):207-13.	link
2007-10	Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism Kim, Jong-Min; Hong, Susie; Kim, Gyoung Pyoung; Choi, Yoon Jae; Kim, Yu Kyeong; Park, Sung Sup; Kim, Sang Eun; Jeon, Beom S Arch Neurol. 2007 Oct;64(10):1510-8.	link
2009	효율적인 골수이식생착추적 검사법의 확립을 위한 새로운 단일염기다형성 정량분석법의 개발 박현웅	link
2009-10	Efficient Molecular Genetic Diagnosis of Enlarged Vestibular Aqueducts in East Asians Choi, Byung Yoon; Stewart, Andrew K.; Cha, Won Jae; Seong, Moon-Woo; Nishimura, Katherine K.; Park, Sung Sup; Park, Shi-Nae; Kim, Chong-Sun; Oh, Seung-Ha; Griffith, Andrew J.; Alper, Seth L.; Chang, Sun O.; Chung, Jong Woo; Kim, Seung Won GENETIC TESTING AND MOLECULAR BIOMARKERS; Vol.13 5; 679-687	view file DOI
2010-02	The LRRK2 G2385R variant is a risk factor for sporadic Parkinson`s disease in the Korean population Kim, Jong-Min; Lee, Jee-Young; Kim, Ji Seon; Kim, Hee Jin; Cho, Jin-Hwan; Jeon, Beom S.; Park, Sung Sup; Shin, Eun-Soon PARKINSONISM & RELATED DISORDERS; Vol.16 2; 85-88	DOI
2010-05	The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6 Kim, Jong-Min; Lee, Jee-Young; Kim, Ji Seon; Kim, Hee Jin; Kim, Yu Kyeong; Kim, Sang Eun; Jeon, Beom S.; Park, Sung Sup JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY; Vol.81 5; 529-532	DOI
2010-06	Clinical course of non-severe aplastic anemia in adults Park, Myoung Hee; Ahn, Hyo Seop; Kim, Byoung-Kook; Park, Seonyang; Lee, Yun Gyoo; Kim, Inho; Kwon, Ji Hyun; Shin, Hee Young; Koh, Youngil; Park, Sung Sup; Lee, Dong Soon; Yoon, Sung Soo; Kim, Hyun Kyung; Song, Eun Young; Park, Hayne Cho INTERNATIONAL JOURNAL OF HEMATOLOGY; Vol.91 5; 770-775	DOI
2010-06	Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations Park, June Dong; Lim, ByungChan; Hwang, Yong Seung; Kim, Ki Joong; Kang, Seong-Ho; Park, Sung Sup; Chae, Jong Hee; Lee, Joon Soo; Cho, Sung Im; Kim, Seung Ki JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 957-960	view file DOI
2010-06	Antituberculosis medication as a possible epigenetic factor of Leber`s hereditary optic neuropathy Seo, Je Hyun; Hwang, Jeong-Min; Park, Sung Sup CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY; Vol.38 4; 363-366	DOI
2010-08	Patient HSP70-hom TG haplotype is associated with decreased transplant-related mortality and improved survival after sibling HLA-matched hematopoietic stem cell transplantation Park, Myoung Hee; Park, Seonyang; Kim, Byoung Kook; Kim, Inho; Kim, Jin Hee; Yoon, Sung-Soo; Park, Sung Sup; Rhee, Ji Young; Cho, Hyeon Jin; Hong, Yun-Chul; Lee, Jong-Eun; Cho, Eun-Young; Kim, Jin Won CLINICAL TRANSPLANTATION; Vol.24 4; 459-466	DOI
2010-12	Prognosis of Secondary Acute Myeloid Leukemia is Affected by the Type of the Preceding Hematologic Disorders and the Presence of Trisomy 8 Koh, Youngil; Kim, Inho; Song, Eun Young; Bae, Ji-Yeon; Lee, Dong Soon; Park, Myoung Hee; Kim, Byoung Kook; Park, Seonyang; Park, Sung Sup; Yoon, Sung-Soo; Kim, Hyun-Kyung JAPANESE JOURNAL OF CLINICAL ONCOLOGY; Vol.40 11; 1037-1045	DOI
2015-05	A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing Solomon, Ponnumony John; Margaret, Priya; Rajendran, Ramya; Ramalingam, Revathy; Menezes, Godfred A; Shirley, Alph S; Lee, Seung Jun; Seong, Moon-Woo; Park, Sung Sup; Seol, Dodam; Seo, Soo Hyun Italian Journal of Pediatrics, 41(1):38	view file DOI
2016-07	Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma Lee, Jee-Soo; Lee, Ji-Hyun; Lee, Kyu Eun; Kim, Jung Hee; Hong, Joon Mo; Ra, Eun Kyung; Seo, Soo Hyun; Lee, Seung Jun; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo BMC Medical Genetics, 17(1):48	view file DOI
2019-03	The Korean undiagnosed diseases program: lessons from a one-year pilot project Kim, Soo Yeon; Lim, Byung Chan; Lee, Jin Sook; Kim, Woo Joong; Kim, Hyuna; Ko, Jung Min; Kim, Ki Joong; Choi, Sun Ah; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Cho, Anna; Moon, Jangsup; Seong, Moon Woo; Park, Sung Sup; Lee, Yun Jeong; Kim, Young Ok; Kim, Jon Soo; Kim, Won Seop; Kwon, Young Se; Park, June Dong; Ahn, Younjhin; Hwang, Joo-Yeon; Park, Hyun-Young; Lee, Youngha; Choi, Murim; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68	view file DOI

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