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

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity

病例报告:一名患有疫苗相关性麻痹性脊髓灰质炎的婴儿揭示了全球在先天性免疫缺陷疾病治疗方面存在的差异

Chan, Chee Mun; Fong, Elisabeth Sue Shuen; Yeo, Daryl Yuan Chong; Ang, Elizabeth Y; Liu, Isabella Ming Zhen; Ong, Hian Tat; Chan, Si Min; Chin, Hui-Lin; Yeap, Frances Shi Hui; Kee, Chee Kwang; Tan, Teresa Shu Zhen; Ng, Nicholas Beng Hui; Zhong, Youjia; Lin, Jeremy Bingyuan; Wong, Lydia Su Yin

McCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review

McCune-Albright综合征作为范可尼综合征和肾衰竭的一种罕见病因:病例报告及文献综述

Qian Le Boh, Geraldine Venessa; Chin, Hui-Lin; Zhang, Yao Chun; Lim, Ru Sin

Beyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia

鼻出血之外:遗传性出血性毛细血管扩张症的级联筛查和症状前治疗

Ang, Chen Xiang; Chin, Hui-Lin; Tan, Shu Zhen Teresa

Autoimmune retinopathy in FERMT1-related primary immune regulatory disorder: A Case Study

FERMT1相关原发性免疫调节障碍中的自身免疫性视网膜病变:病例研究

Oh, Jaslyn; Chin, Hui-Lin; Pulido, Jose; Chan, Hwei Wuen

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Alport基因的致病变异在新加坡多元种族人群中普遍存在,其中华人人群的发生率最高。

Lim, Tina Si Ting; Koh, Chee Teck; Savige, Judith; Ng, Alvin Yu-Jin; Ng, Jun Li; Chin, Hui-Lin; Lim, Weng Khong; Chan, Gek Cher; Yeo, See Cheng; Leow, Esther Hui Min; Yan, Benedict Junrong; Ng, Kar Hui; Zhang, Yaochun

Atypical Presentation of an LMNB1 Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant Leukodystrophy

LMNB1重复基因沉默子区非典型表现:超越经典的常染色体显性遗传性脑白质营养不良

Wang, Jia Dong James; Kimball, Tamara N; Prapiadou, Savvina; Low, Xi Zhen; Vijayan, Joy; Chin, Hui-Lin; Tan, Benjamin Yong-Qiang

Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and Protocol

新加坡肾内科医生主导的肾小球疾病基因组检测的临床应用:理论基础和方案

Lim, Cynthia; Lim, Ru Sin; Choo, Jason; Leow, Esther Huimin; Chan, Gek Cher; Zhang, Yaochun; Ng, Jun Li; Chin, Hui-Lin; Tan, Ee Shien; Goh, Jeannette; Gandhi, Naline; Ng, Yong Hong; Than, Mya; Ganesan, Indra; Chong, Siew Le; Yap, Celeste; Chao, Sing Ming; Cham, Breana; Kam, Sylvia; Lim, Jiin Ying; Mok, Irene; Tan, Hui Zhuan; Kwek, Jia Liang; Lee, Tung Lin; Wang, Ziyin; Goh, Su Mein; Lim, Regina; Yeo, See Cheng; Teo, Boon Wee; Da, Yi; Matchar, David; Ng, Kar Hui

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

病例报告:对两个家族中 COL4A5 非经典剪接变异体的评估

Koh, Chee Teck; Lim, Tina Si Ting; Loh, Alwin Hwai Liang; Ng, Yan Fei; Kwek, Jia Liang; Lau, Perry Yew Weng; Chin, Hui-Lin; Ng, Jun Li; Than, Mya; Mok, Irene Yanjia; Lim, Cynthia Ciwei; Chong, Kay Yuan; Choo, Jason Chon Jun; Yap, Hui Kim; Ng, Kar Hui; Zhang, Yaochun

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

病例报告:全基因组测序意外诊断出囊性纤维化,改变了患有脑型X连锁肾上腺脑白质营养不良症儿童的造血干细胞移植计划

Sy, Jann Adriel Chua; Tan, Poh Lin; Lin, Jeremy Bingyuan; Tay, Stacey Kiat-Hong; Chin, Hui-Lin

Should newborn genetic testing for autism be introduced?

是否应该引入新生儿自闭症基因检测?

Aishworiya, Ramkumar; Chin, Hui-Lin; Savulescu, Julian