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

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly

一种新型 GATAD2B 移码变异导致伴有弯指畸形的 GATAD2B 相关神经发育障碍

Tan, Cheryl Weiqi; Lim, Jiin Ying; Rafi'ee, Khadijah; Goh, Jeannette; Choong, Chew Thye; Chao, Sing Ming; Chang, Benjamin; Jamuar, Saumya S; Tan, Ene-Choo

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

一种与 CHILD 综合征相关的新型 NSDHL 变异,伴有胃肠道表现和局部皮肤受累。

Tan, Ene-Choo; Chia, Shi Yun; Rafi'ee, Khadijah; Lee, Shan Xian; Kwek, Andrew Boon Eu; Tan, Sze Hwa; Ng, Victor Weng Leong; Wei, Heming; Koo, Stephanie; Koh, Ai Ling; Koh, Mark Jean-Aan