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SCIESCOPUS
A Variant of Desbuquois Dysplasia Characterized by Advanced Carpal Bone Age, Short Metacarpals, and Elongated Phalanges: Report of Seven Cases

Kim, Ok-Hwa, Nishimura, Gen, Song, Hae-Ryong, Matsui, Yoshito, Sakazume, Satoru, Yamada, Masanobu, Narumi, Yoko, Alanay, Yasemin, Unger, Sheila, Cho, Tae-Joon, et al.

ArticleIssue Date2010CitationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.152A, no.4, pp.875 - 885PublisherWILEY-LISS
SCIESCOPUSKCI
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophyopen access

Han, Minje, Jun, Sun-Hee, Lee, Yun-Jin, Eun, Baik-Lin, Lee, Seung Jun, Seong, Moon-Woo, Park, Sung Sup, Song, Sang Hoon, Park, Hyung-Doo, Song, Junghan

ArticleIssue Date2015CitationANNALS OF LABORATORY MEDICINE, v.35, no.4, pp.458 - 462PublisherKOREAN SOC LABORATORY MEDICINE
SCIESCOPUS
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control studyopen access

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, et al.

ArticleIssue Date2014CitationBMC MUSCULOSKELETAL DISORDERS, v.15PublisherBIOMED CENTRAL LTD
SCIESCOPUS
CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER

Cho, Anna, Seong, Moon-Woo, Lim, Byung Chan, Lee, Hwa Jeen, Byeon, Jung Hye, Kim, Seung Soo, Kim, Soo Yeon, Choi, Sun Ah, Wong, Ai-Lynn, Lee, Jeongho, et al.

ArticleIssue Date2017CitationMUSCLE & NERVE, v.55, no.5, pp.727 - 734PublisherWILEY
SCIESCOPUS
COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss

Park, Eujin, Ahn, Yo Han, Kang, Hee Gyung, Yoo, Kee Hwan, Won, Nam Hee, Lee, Kyoung Bun, Moon, Kyung Chul, Seong, Moon-Woo, Gwon, Tae Rin, Park, Sung Sup, et al.

ArticleIssue Date2017CitationAMERICAN JOURNAL OF KIDNEY DISEASES, v.70, no.1, pp.139 - 144PublisherW B SAUNDERS CO-ELSEVIER INC
SCIESCOPUSKCI
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Shim, Jung Ok, Yang, Hye Ran, Moon, Jin Soo, Chang, Ju Young, Ko, Jae Sung, Park, Sung Sup, Seo, Jeong Kee

ArticleIssue Date2018CitationJOURNAL OF KOREAN MEDICAL SCIENCE, v.33, no.26PublisherKOREAN ACAD MEDICAL SCIENCES
SCIESCOPUS
Revisit of Multiple Epiphyseal Dysplasia: Ethnic Difference in Genotypes and Comparison of Radiographic Features Linked to the COMP and MATN3 Genesopen access

Kim, Ok-Hwa, Park, Hyunwoong, Seong, Moon-Woo, Cho, Tae-Joon, Nishimura, Gen, Superti-Furga, Andrea, Unger, Sheila, Ikegawa, Shiro, Choi, In Ho, Song, Hae-Ryong, et al.

ArticleIssue Date2011CitationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.155A, no.11, pp.2669 - 2680PublisherWILEY-BLACKWELL
SCIESCOPUS
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructureopen access

Kim, Soo Yeon, Lee, Seungbok, Woo, Hyewon, Han, Jiyeon, Ko, Young Jun, Shim, Youngkyu, Park, Soojin, Jang, Se Song, Lim, Byung Chan, Ko, Jung Min, et al.

ArticleIssue Date2022CitationOrphanet Journal of Rare Diseases, v.17, no.1PublisherBioMed Central
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