日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies

一家族中发现一种新的CNOT3框内缺失变异,该变异导致智力发育障碍、语言发育迟缓和面部畸形

Lee, Cha Gon; Kim, Hyun Jung; Seol, Chang Ahn; Ki, Chang-Seok

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

一种新的从头杂合ARID1A错义变异簇顺式c.[5954C>G;6314C>T;6334C>T;6843G>C]导致科芬-西里斯综合征

Lee, Cha Gon; Ki, Chang-Seok

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

韩国某单一机构急性坏死性脑病累及脑干的临床结局

Lee, Cha Gon; Kim, Ji Hye; Lee, Munhyang; Lee, Jeehun

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome

17p11.2-11.2区域的相互缺失和重复:韩国Smith-Magenis综合征和Potocki-Lupski综合征患者

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

The efficacy and tolerability of rufinamide in intractable pediatric epilepsy

鲁非酰胺治疗难治性儿童癫痫的疗效和耐受性

Kim, Jae Yeon; Lee, Cha Gon; Yu, Hee Joon; Nam, Sook Hyun; Lee, Jeehun; Lee, Munhyang