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Showing results 1 to 42 of 42

Issue Date	Title / Author(s) / Citation	File
1993-06	Serum Lipoprotein (a) Level is Decreased In Patients with Liver Diseases Kim, Jin Q; Hong, Young Joon; Song, Jung Han; Park, Sung Sup; Lee, Hyo Suk; Kim, Chung Yong; Kim, Sang In Seoul J Med, Vol.34 No.2, pp. 147-151	view file
2004	Leber씨 유전성 시신경병증에서 미토콘드리아 DNA 양과 MTND4 유전자 발현에 관한 연구 성문우	link
2006	한국인 정상안압녹내장환자에서 optineurin 유전자 염기변이의 분자유전학적 특성 고현수	link
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
2006-09	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 Aug 29;12:1016-21.	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	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	레버 선천성 흑암시의 분자유전학적 연구 성문우	link
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	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
2008	Fetus-in-fetu in the cranium of a 4-month-old boy: histopathology and short tandem repeat polymorphism-based genotyping. Case report Kim, Jin Wook; Park, Sung-Hye; Park, Sung-Sup; Wang, Kyu-Chang; Cho, Byung-Kyu; Kim, So Yeon; Ra, Eun Kyung; Kim, Chae-Yong; Kim, Seung-Ki J Neurosurg Pediatr 1:410-414, 2008	DOI
2008-07	Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells Phi, Ji Hoon; Park, Sung-Hye; Chae, Jong Hee; Hong, Ki Ho; Park, Sung Sup; Kang, Ji Hyun; Jun, Jong Kwan; Cho, Byung-Kyu; Wang, Kyu-Chang; Kim, Seung-Ki Childs Nerv Syst 24:1499-1503	DOI
2009	효율적인 골수이식생착추적 검사법의 확립을 위한 새로운 단일염기다형성 정량분석법의 개발 박현웅	link
2009-01	Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans Kim, So Yeon; Kim, Ji Yeon; Kim, Gyoung Pyoung; Sung, Jung-Jun; Lim, Kyu Sang; Lee, Kwang-Woo; Chae, Jong Hee; Hong, Yoon-Ho; Seong, Moon-Woo; Park, Sung Sup Korean J Lab Med. 2008;28(6):483-492	view file link
2009-03	The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson`s Disease and Multiple System Atrophy Cho, Jin-Whan; Kim, Sung-Yeon; Park, Sung-Sup; Jeon, Beom S. JOURNAL OF CLINICAL NEUROLOGY; Vol.5 1; 29-32	view file DOI
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
2010-05	Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD Kim, Han-Joon; Jeon, Beom S.; Yun, Ji Young; Seong, Moon-Woo; Lee, Jee-Young; Park, Sung Sup PARKINSONISM & RELATED DISORDERS; Vol.16(4); 305-306	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
2012-02	자궁경부의 인유두종 바이러스 감염의 분자유전학적 진단 박승만	link
2012-08	A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A Park, Su-Yeon; Kim, So Yeon; Hong, Yoon-Ho; Cho, Sung Im; Seong, Moon-Woo; Park, Sung Sup NEUROGENETICS Vol.13 No.3, pp. 275-280	DOI
2012-08	A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V. Cho, Tae-Joon; Lee, Kyung-Eun; Lee, Sook-Kyung; Song, Su Jeong; Kim, Kyung Jin; Jeon, Daehyun; Lee, Gene; Kim, Ha-Neui; Lee, Hye Ran; Eom, Hye-Hyun; Lee, Zang Hee; Kim, Ok-Hwa; Park, Woong-Yang; Park, Sung Sup; Ikegawa, Shiro; Yoo, Won Joon; Choi, In Ho; Kim, Jung-Wook AMERICAN JOURNAL OF HUMAN GENETICS Vol.91 No.2, pp. 343-348	DOI
2014-02	Molecular characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy 서수현	view file
2014-03	Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study Seo, Sang Gyo; Song, Hae-Ryong; Kim, Hyun Woo; Yoo, Won Joon; Shim, Jong Sup; Chung, Chin Youb; Park, Moon Seok; Oh, Chang-Wug; Jeong, Changhoon; Song, Kwang Soon; Kim, Ok-Hwa; Park, Sung Sup; Choi, In Ho; Cho, Tae-Joon BMC Musculoskeletal Disorders Vol.15, pp.1-8	view file DOI
2014-03	Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study Seo, Sang Gyo; Song, Hae-Ryong; Kim, Hyun Woo; Yoo, Won Joon; Shim, Jong Sup; Chung, Chin Youb; Park, Moon Seok; Oh, Chang-Wug; Jeong, Changhoon; Song, Kwang Soon; Kim, Ok-Hwa; Park, Sung Sup; Choi, In Ho; Cho, Tae-Joon BMC Musculoskeletal Disorders, 15(1):84	view file DOI
2014-09	A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients Seong, Moon-Woo; Cho, Sung Im; Kim, Kyu Hyung; Chung, Il Yong; Kang, Eunyoung; Lee, Jong Won; Park, Sue K; Lee, Min Hyuk; Choi, Doo Ho; Yom, Cha Kyong; Noh, Woo-Chul; Chang, Myung Chul; Park, Sung Sup; Kim, Sung-Won BMC Cancer, 14:645	view file 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
2016-02	다중유전자패널을 이용한 유전성 강직성 하지마비의 분자유전학적 규명 박현웅	view file
2016-02	유전성 유방암·난소암에서 BRCA1/BRCA2 돌연변이 검출을 위한 차세대 염기서열 분석법의 임상 적용 이승준	view file
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
2016-08	Analysis of the vaginal microbiome by next-generation sequencing and evaluation of its performance as a clinical diagnostic tool in vaginitis 홍기호	view file
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
2019-11	Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010–2016 Lee, Joon Kee; Seong, Moon-Woo; Shin, Dongjin; Kim, Jong-Il; Han, Mi Seon; Yeon, Youbin; Cho, Sung Im; Park, Sung Sup; Choi, Eun Hwa BMC Genomics, 20(1):910	view file link
2021	Clinical application of the algorithm for detecting copy number variations at the exon level using next-generation sequencing data 김만진	view file link
2022	Detection of circulating tumor DNA in resectable pancreatic ductal adenocarcinoma 이지수	view file link