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

Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic Manifestations

拓展Arboleda-Tham综合征的临床谱:神经影像学发现和血液学表现

Kim, Jee Min; Sunwoo, Yoon; Kim, Haeryung; Kim, Young Ho; Cha, Jong Ho; Lee, Seungbok; Ko, Jung Min; Lim, Byungchan; Kim, Soo Yeon; Chae, Jong-Hee

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

无症状新生儿染色体微阵列筛查的临床和遗传意义

Choi, Naye; Kim, Hwa Young; Ko, Jung Min

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study

布罗索单抗治疗儿童X连锁低磷血症两年后的骨骼结构结局:一项放射学队列研究

Lim, Hayeon; Lee, Wonik; Choi, Naye; Lee, Yun Jeong; Shin, Chang Ho; Lee, Young Ah; Ko, Jung Min; Song, Mi Hyun

Comparison of bone age between both limbs in patients with congenital hemihyperplasia or hemihypoplasia: A retrospective study

先天性半侧骨肥大或半侧骨发育不全患者双侧肢体骨龄的比较:一项回顾性研究

Lee, Wonik; Ko, Jung Min; Song, Ki Ill; Yu, Su Yeon; Song, Mi Hyun; Cho, Tae-Joon; Shin, Chang Ho

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models

星形胶质细胞中异常的ERK信号传导会损害RAS病相关BRAF突变小鼠模型的学习和记忆能力。

Kang, Minkyung; Choi, Jihye; Han, Jeongho; Araki, Toshiyuki; Kim, Soo-Whee; Ryu, Hyun-Hee; Kim, Min-Gyun; Kim, Seoyeon; Jang, Hanbyul; Kim, Sun Yong; Hwang, Kyoung-Doo; Kim, Soobin; Yoo, Myeongjong; Lee, Jaegeon; Kim, Kitae; Park, Pojeong; Choi, Ja Eun; Han, Dae Hee; Kim, Yujin; Kim, Jeongyeon; Chang, Sunghoe; Kaang, Bong-Kiun; Ko, Jung Min; Cheon, Keun-Ah; An, Joon-Yong; Kim, Sang Jeong; Park, Hyungju; Neel, Benjamin G; Kim, Chul Hoon; Lee, Yong-Seok

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

罕见编码变异对神经发育障碍患者小头畸形的影响

Yoon, Jihoon G; Jang, Hyunsoo; Lee, Seungbok; Jang, Se Song; Park, Soojin; Cho, Jaeso; Kim, Minji; Han, Jiye; Yun, Hyounji; Kim, Man Jin; Kim, Soo Yeon; Kim, Woo Joong; Cho, Anna; Lee, Jin Sook; Choi, Murim; Fernandez-Jaen, Alberto; Silva, Sebastian; Uribe-San-Martín, Reinaldo; Cantillano, Christian; Miyake, Noriko; Lim, Byung Chan; Ko, Jung Min; Kim, Ki Joong; Yoon, Ki-Jun; Chae, Jong-Hee

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.

努南综合征及相关 RAS 病中感觉神经性听力损失的基因特征和基因型-表型相关性

Lee Seung Jae, Jeong Sohyang, Lee Somin, Jung Seong Ho, Suh Myung-Whan, Song Jae-Jin, Lee Jun Ho, Ko Jung Min, Park Moo Kyun, Lee Sang-Yeon

Long-term kidney outcomes in patients with Kabuki syndrome

歌舞伎综合征患者的长期肾脏预后

Han, Seongjae; Lee, Hyeonju; Park, Peong Gang; Choi, Naye; Ahn, Yo Han; Ko, Jung Min; Kang, Hee Gyung

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients

维德曼-施泰纳综合征:10例韩国儿科患者的基因谱和临床表型描述

Yoo, Jeesun; Park, A Young; Ko, Jung Min

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B

一个家族患有指甲髌骨综合征,其病因是LMX1B基因的种系嵌合缺失

Jang, Joowon; Im, Hara; Lee, Hyesu; Sung, Hobin; Cho, Sung Im; Lee, Jee-Soo; Ko, Jung Min; Seong, Moon-Woo