Resultados de procura - Ko, Jung Min

Genetic syndromes associated with overgrowth in childhood por Ko, Jung Min

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Genetic Syndromes associated with Congenital Heart Disease por Ko, Jung Min

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Genetic Syndromes Associated with Craniosynostosis por Ko, Jung Min

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Chromosomal Microarray: Application for Congenital Heart Diseases por Ko, Jung Min

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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood por Kim, Hwa Young, Ko, Jung Min

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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 por Ryu, Jaehui, Ko, Jung Min, Shin, Choong-Ho

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First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome por Ko, Jung Min, Choi, In-Ho, Baek, Goo-Hyun, Kim, Kee-Won

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Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases por Kim, Yoo Jinie, Ko, Jung Min, Song, Junghan, Lee, Kyung-A

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Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism por KO, JUNG MIN, YANG, JUNG-AH, JEONG, SEON-YONG, KIM, HYON-JU

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A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication por Lee, Gyung Min, Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won

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Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II por Kim, Hwa Young, Kim, Man Jin, Seong, Moon-Woo, Ko, Jung Min

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Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome por Choufani, Sanaa, Ko, Jung Min, Lou, Youliang, Shuman, Cheryl, Fishman, Leona, Weksberg, Rosanna

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Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome por Ko, Jung Min, Kim, Jun Bum, Pai, Ki Soo, Yun, Jun-No, Park, Sang-Jin

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A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy por Lee, Seung Hoon, Ko, Jung Min, Song, Mi‐Kyoung, Song, Junghan, Park, Kyung Sun

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Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia por Shim, Youngbo, Ko, Jung Min, Cho, Tae-Joon, Kim, Seung‐Ki, Phi, Ji Hoon

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Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA por Lee, Seung Hoon, Kim, Hwa Young, Cho, Tae-Joon, Kim, Hyoungmin, Ko, Jung Min

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Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis por Ko, Jung Min, Kim, Gu-Hwan, Kim, Kyung Mo, Hong, Soo-Jong, Yoo, Han-Wook

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The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence por Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan

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Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach por Cho, Tae-Joon, Ko, Jung Min, Kim, Hyoungmin, Shin, Hyung-Ik, Yoo, Won Joon, Shin, Chang Ho

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Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome por Choi, Naye, Kim, Hwa Young, Lim, Byung Chan, Chae, Jong‐Hee, Kim, Soo Yeon, Ko, Jung Min

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