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Showing results 1 to 9 of 9

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2010-09	A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1 Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Kim, Kang Suhp; Park, Woong-Yang; Lee, Young-Ju; Superti-Furga, Andrea JOURNAL OF MEDICAL GENETICS; Vol.47 9; 638-639	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
2014-03	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 No.1, p. 84	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
2014-03	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
2016-01	Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis Kuchinskaya, Ekaterina; Grigelioniene, Giedre; Hammarsjö, Anna; Lee, Hye-Ran; Högberg, Lotta; Grigelionis, Gintautas; Kim, Ok-Hwa; Nishimura, Gen; Cho, Tae-Joon Orphanet Journal of Rare Diseases, 11(1):1	view file
2016-06	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing Bae, Jun-Seok; Kim, Nayoung K. D.; Lee, Chung; Kim, Sang Cheol; Lee, Hey Ran; Song, Hae-Ryong; Park, Kun Bo; Kim, Hyun Woo; Lee, Soon Hyuck; Kim, Ha Yong; Lee, Soon Chul; Jeong, Changhoon; Park, Moon Seok; Yoo, Won Joon; Chung, Chin Youb; Choi, In Ho; Kim, Ok-Hwa; Park, Woong-Yang; Cho, Tae-Joon Genetics in Medicine, Vol.18 No.6, pp.563-569	DOI
2019-05	Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases Won, Joon Yeon; Kim, Dayeon; Park, Seon Young; Lee, Hye Ran; Lim, Jong-Seok; Park, Jong Hoon; Song, Mi Hyun; Song, Hae Ryong; Kim, Ok-Hwa; Kim, Yonghwan; Cho, Tae-Joon BMC Medical Genetics. 20(1):70	view file DOI
2021-11	Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome Lee, Sangmoon; Shin, Chang Hoon; Lee, Jawon; Jeong, Seong Dong; Hong, Che Ry; Kim, Jun-Dae; Kim, Ah-Ra; Park, Boryeong; Son, Soo Jin; Kokhan, Oleksandr; Yoo, Taekyeong; Ko, Jae Sung; Sohn, Young Bae; Kim, Ok-Hwa; Ko, Jung Min; Cho, Tae-Joon; Wright, Nathan T.; Seong, Je Kyung; Jin, Suk-Won; Kang, Hyoung Jin; Kim, Hyeon Ho; Choi, Murim Blood, Vol.138 No.21, pp.2117-2128	DOI

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