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Showing results 1 to 20 of 20

Issue Date	Title / Author(s) / Citation	File
2018-03	A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing Kim, Yoon-Myung; Seo, Go Hun; Kim, Gu-Hwan; Ko, Jung Min; Choi, Jin-Ho; Yoo, Han-Wook BMC Medical Genetics, 19(1):35	view file DOI
2018-10	DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data Kang, Yeeok; Nam, Seong-Hyeuk; Park, Kyung Sun; Kim, Yoonjung; Kim, Jong-Won; Lee, Eunjung; Ko, Jung Min; Lee, Kyung-A; Park, Inho BMC Bioinformatics, 19(1):381	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
2019-11	A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up Ryu, Jaehui; Ko, Jung Min; Shin, Choong-Ho BMC Medical Genetics, 20(1):188	view file link
2019-12	Diagnosis and management of hip dislocation in patients with kabuki syndrome Lim, Chaemoon; Jung, Sung-Taek; Shin, Chang Ho; Park, Moon Seok; Yoo, Won Joon; Chung, Chin Youb; Choi, In Ho; Ko, Jung Min; Cho, Tae-Joon Clinics in Orthopedic Surgery, Vol.11 No.4, pp.474-481	DOI
2021-02	Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia Shim, Youngbo; Ko, Jung Min; Cho, Tae-Joon; Kim, Seung‐Ki; Phi, Ji Hoon Orphanet Journal of Rare Diseases. 2021 Feb 12;16(1):81	view file DOI
2021-03	Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenital Shin, Sohyun; Suh, Dong In; Ko, Jung Min; Park, June Dong; Lee, Jeong-Moo; Yi, Nam-Joon; Kim, Young Tae; Park, Samina; Lee, Seunghyun; Koh, Jaemoon; Choi, Yu Hyeon Pediatric Transplantation, Vol.25 No.2, pp.1-7	DOI
2021-10	Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy Shin, Chang Ho; Lim, Chaemoon; Kim, Hwa Young.; Yoo, Won Joon.; Cho, Tae-Joon; Choi, In Ho; Ko, Jung Min Orphanet Journal of Rare Diseases. 2021 Oct 09;16(1):418	view file DOI
2022-04	The importance of extracutaneous organ involvement for the clinical severity and prognosis observed in incontinentia pigmenti caused by IKBKG mutations Kim, Hwa Young; Ko, Jung Min; Song, Hyun Beom; Kim, Kyu Han; Chae, Jong Hee; Kim, Man Jin; Seong, Moon-Woo European Journal of Human Genetics, Vol.30 No.SUPPL 1, pp.166-167
2022-05	The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism Lee, Youngeun; Park, Hyun Jin; Kang, Hyoung Jin; Ko, Jung Min; Kim, Boram; Chang, Yoon Hwan; Kim, Hyun Kyung; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo Annals of Laboratory Medicine, Vol.42 No.3, pp.384-388	DOI
2022-05	Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II Kim, Hwa Young; Kim, Man Jin; Seong, Moon-Woo; Ko, Jung Min Annals of Laboratory Medicine, Vol.42 No.3, pp.373-375	DOI
2022-06	Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood Kim, Hwa Young; Ko, Jung Min Annals of Pediatric Endocrinology & Metabolism, Vol.27 No.2, pp.90-97	DOI
2022-06	Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids Kim, Jieun; Lee, Seungbok; Lee, Jaemeun; Park, Jong-Chan; Kim, Kyung Hyun; Ko, Jung Min; Park, Sun-Hyun; Kim, Seung-Ki; Mook-Jung, Inhee; Lee, Ji Yeoun Molecular Genetics and Metabolism, Vol.136 No.2, pp.132-144	DOI
2022-06	Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA Lee, Seung Hoon; Kim, Hwa Young; Cho, Tae-Joon; Kim, Hyoungmin; Ko, Jung Min Molecular Genetics and Metabolism Reports, Vol.31, p. 100869	DOI
2022-09	Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis Mok, Sujung; Chang, Sam Yeol; Park, Sung Cheol; Chae, Ihnseok; Kim, Hyoungmin; Chang, Bong -Soon; Cho, Tae -Joon; Ko, Jung Min Clinics in Orthopedic Surgery, Vol.14 No.3, pp.410-416	DOI
2022-09	Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Park, Soojin; Jang, Se Song; Lee, Seungbok; Kim, Minsoo; Sim, Hyungtai; Jeon, Hyeongseok; Hong, Sung Eun; Lee, Jean; Lee, Jeongeun; Jeon, Eun Young; Lee, Jeongha; Lee, Cho-Rong; Kim, Soo Yeon; Kim, Man Jin; Yoon, Jihoon G.; Lim, Byung Chan; Kim, Woo Joong; Kim, Ki Joong; Ko, Jung Min; Cho, Anna; Lee, Jin Sook; Choi, Murim; Chae, Jong-Hee Frontiers in Genetics, Vol.13, p. 990015	DOI
2022-10	Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome Jang, Seoyun; Ahn, Yo Han; Ko, Jung Min; Ko, Jae Sung; Lim, Sojung; Kang, Hee Gyung Frontiers in Pediatrics, Vol.10, p. 1032653	DOI
2022-11	Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome Kim, Hwa Young; Shin, Choong Ho; Lee, Young Ah; Shin, Chang Ho; Kim, Gu-Hwan; Ko, Jung Min Annals of Laboratory Medicine, Vol.42 No.6, pp.668-677	DOI
2023-10	Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures Lee, Jong Seok; Shim, Youngbo; Cho, Tae-Joon; Kim, Seung-Ki; Ko, Jung Min; Phi, Ji Hoon Orphanet Journal of Rare Diseases, Vol.18(1):311	view file DOI
2023-12	Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes Song, Seulki; Koh, Youngil; Kim, Seokhyeon; Lee, Sang Mi; Kim, Hyun Uk; Ko, Jung Min; Lee, Se-Hoon; Yoon, Sung-Soo; Park, Solip Genome Medicine, Vol.15(1):107	view file DOI