A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome

por Lee, Cha Gon, Ki, Chang-Seok
Publicado 2021

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes

por Lee, Cha Gon, Lee, Jeehun, Lee, Munhyang
Publicado 2018

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

por Lee, Cha Gon, Jang, Jahyeon, Jin, Hyun-Seok
Publicado 2018

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

por Lee, Cha Gon, Jang, Ja-Hyun, Seo, Ji-Young
Publicado 2019

Clinical outcome of acute necrotizing encephalopathy in related to involving the brain stem of single institution in Korea

por Lee, Cha Gon, Kim, Ji Hye, Lee, Munhyang, Lee, Jeehun
Publicado 2014

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

por Lee, Cha Gon, Park, Sang-Jin, Yun, Jun-No, Yim, Shin-Young, Sohn, Young Bae
Publicado 2012

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

por Jin, Hyun-Seok, Kim, Jeonhyun, Kwak, Woori, Jeong, Hyeonsoo, Lim, Gyu-Bin, Lee, Cha Gon
Publicado 2017

Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

por Jin, Hyun-Seok, Kim, Jeonghyung, Kwak, Woori, Jeong, Hyeonsoo, Lim, Gyu-Bin, Lee, Cha Gon
Publicado 2017

The Efficacy and Tolerability of Rufinamide in Intractable Pediatric Epilepsy

por Kim, Jae Yeon, Lee, Cha Gon, Yu, Hee Joon, Nam, Sook Hyun, Lee, Jeehun, Lee, Munhyang
Publicado 2012

Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study

por Lee, Cha Gon, Park, Sang-Jin, Yun, Jun-No, Ko, Jung Min, Kim, Hyon-Ju, Yim, Shin-Young, Sohn, Young Bae
Publicado 2013

Brain abscess in Korean children: A 15-year single center study

por Lee, Cha Gon, Kang, Seong Hun, Kim, Yae Jean, Shin, Hyung Jin, Choi, Hyun Shin, Lee, Jee Hun, Lee, Mun Hyang
Publicado 2010