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

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

一种另辟蹊径的方法:通过将蛋白质组学整合到多组学指导的外显子组重新分析中,推进神经系统疾病的诊断

Chui Martin Man-Chun, Kwong Anna Ka-Yee, Leung Hiu Yu Cherie, Pang Chingyiu, Scheller Ines F, Wong Sheila Suet-Na, Fung Cheuk-Wing, Yépez Vicente A, Gagneur Julien, Mak Christopher Chun-Yu, Chung Brian Hon-Yin

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

利用外显子组和基因组测序数据对1543名中国南方居民的隐性携带者状态进行综合分析

Chau, Jeffrey Fong Ting; Yu, Mullin Ho Chung; Chui, Martin Man Chun; Yeung, Cyrus Chun Wing; Kwok, Aaron Wing Cheung; Zhuang, Xuehan; Lee, Ryan; Fung, Jasmine Lee Fong; Lee, Mianne; Mak, Christopher Chun Yu; Ng, Nicole Ying Ting; Chung, Claudia Ching Yan; Chan, Marcus Chun Yin; Tsang, Mandy Ho Yin; Chan, Joshua Chun Ki; Chan, Kelvin Yuen Kwong; Kan, Anita Sik Yau; Chung, Patrick Ho Yu; Yang, Wanling; Lee, So Lun; Chan, Godfrey Chi Fung; Tam, Paul Kwong Hang; Lau, Yu Lung; Yeung, Kit San; Chung, Brian Hon Yin; Tang, Clara Sze Man

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

支气管扩张症患儿及青少年的功能评估和遗传图谱

Chau, Jeffrey Fong Ting; Lee, Mianne; Chui, Martin Man Chun; Yu, Mullin Ho Chung; Fung, Jasmine Lee Fong; Mak, Christopher Chun Yu; Chau, Christy Shuk-Kuen; Siu, Ka Ka; Hung, Jacqueline; Yeung, Kit San; Kwong, Anna Ka Yee; O'Callaghan, Christopher; Lau, Yu Lung; Lee, Chun-Wai Davy; Chung, Brian Hon-Yin; Lee, So-Lun

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory

产前全外显子组测序在结构性先天性异常诊断中的应用——来自本地产前诊断实验室的经验

Lai, Theodora Hei Tung; Au, Leung Kuen Sandy; Lau, Yuen Ting Eunice; Lo, Hei Man; Chan, Kelvin Yuen Kwong; Cheung, Ka Wang; Ma, Teresa Wei Ling; Leung, Wing Cheong; Kong, Choi Wah; Shu, Wendy; So, Po Lam; Kwong, Anna Ka Yee; Mak, Christopher Chun Yu; Lee, Mianne; Chui, Martin Man Chun; Chung, Brian Hon Yin; Kan, Anita Sik Yau