Genetic syndromes associated with overgrowth in childhood

by Jung Min Ko
Published 2013-09-01

Kabuki syndrome: clinical and molecular characteristics

by Chong-Kun Cheon, Jung Min Ko
Published 2015-09-01

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

by Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
Published 2019-11-01

Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation

by Bo-Young Kim, Jung Min Ko, Mi-Hyun Park, Soo Kyung Koo
Published 2019-12-01

A Korean boy with 46,XX testicular disorder of sex development caused by duplication

by Gyung Min Lee, Jung Min Ko, Choong Ho Shin, Sei Won Yang
Published 2014-06-01

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

by Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg
Published 2021-01-01

Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia

by Youngbo Shim, Jung Min Ko, Tae-Joon Cho, Seung‐Ki Kim, Ji Hoon Phi
Published 2021-02-01

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy

by Seung Hoon Lee, Jung Min Ko, Mi‐Kyoung Song, Junghan Song, Kyung Sun Park
Published 2020-09-01

The natural history and prognostic factors of Graves' disease in Korean children and adolescents

by Seung Min Song, Ji-Seok Youn, Jung Min Ko, Chong Kun Cheon, Jin-Ho Choi, Han Wook Yoo
Published 2010-04-01

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

by Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo
Published 2018-03-01

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy

by Chang Ho Shin, Chaemoon Lim, Hwa Young Kim, Won Joon Yoo, Tae-Joon Cho, In Ho Choi, Jung Min Ko
Published 2021-10-01

The strong association of left-side heart anomalies with Kabuki syndrome

by Ja Kyoung Yoon, Kyung Jin Ahn, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Chung Il Noh, Jung Min Ko
Published 2015-07-01

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

by You Jung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Man Jin Kim, Sung Sub Park
Published 2018-12-01

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

by Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Published 2021-05-01

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

by Boram Kim, Man Jin Kim, Keunyoung Hur, Seong Jin Jo, Jung Min Ko, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun
Published 2021-01-01

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

by Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee, Inho Park
Published 2018-10-01

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

by Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae
Published 2021-06-01

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

by Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Published 2020-11-01

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

by Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko
Published 2020-08-01

The Korean undiagnosed diseases program: lessons from a one-year pilot project

by Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee, Young Ok Kim, Jon Soo Kim, Won Seop Kim, Young Se Kwon, June Dong Park, Younjhin Ahn, Joo-Yeon Hwang, Hyun-Young Park, Youngha Lee, Murim Choi, Jong-Hee Chae
Published 2019-03-01