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

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

孟加拉国神经发育障碍人群拷贝数变异图谱的构建及相关基因的表征

Hosneara Akter, Muhammad Mizanur Rahman, Shaoli Sarker, Mohammed Basiruzzaman, Md Mazharul Islam, Md Atikur Rahaman, Md Ashiquir Rahaman, Tamannyat Binte Eshaque, Nushrat Jahan Dity, Shouvik Sarker, Md Robed Amin, Mohammad Monir Hossain, Maksuda Lopa, Nargis Jahan, Shafaat Hossain, Amirul Islam, Ash

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

全外显子组测序在孟加拉国发现了多种罕见儿科遗传疾病的高外显率隐性突变。

Akter, Hosneara; Hossain, Mohammad Shahnoor; Dity, Nushrat Jahan; Rahaman, Md Atikur; Furkan Uddin, K M; Nassir, Nasna; Begum, Ghausia; Hameid, Reem Abdel; Islam, Muhammad Sougatul; Tusty, Tahrima Arman; Basiruzzaman, Mohammad; Sarkar, Shaoli; Islam, Mazharul; Jahan, Sharmin; Lim, Elaine T; Woodbury-Smith, Marc; Stavropoulos, Dimitri James; O'Rielly, Darren D; Berdeiv, Bakhrom K; Nurun Nabi, A H M; Ahsan, Mohammed Nazmul; Scherer, Stephen W; Uddin, Mohammed

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

性腺嵌合体,表现为末端大片段新生重复和缺失,同胞患有不同程度的智力障碍表型

Rahman, Muhammad M; Uddin, Km Furkan; Al Jezawi, Nesreen K; Karuvantevida, Noushad; Akter, Hosneara; Dity, Nushrat J; Rahaman, Md Ashiquir; Begum, Maksuda; Rahaman, Md Atikur; Baqui, Md Abdul; Salwa, Zeena; Islam, Serajul; Woodbury-Smith, Marc; Basiruzzaman, Mohammed; Uddin, Mohammed

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

通过靶向测序在种族同质人群中发现可靶向乳腺癌基因的新突变

Akter, Hosneara; Sultana, Nasima; Martuza, Nazrana; Siddiqua, Aaysha; Dity, Nushrat Jahan; Rahaman, Md Atikur; Samara, Bisan; Sayeed, Ahmed; Basiruzzaman, Mohammed; Rahman, Mohammad Mizanur; Rashidul Hoq, Md; Amin, Md Robed; Baqui, Md Abdul; Woodbury-Smith, Marc; Uddin, K M Furkan; Islam, Syed S; Awwal, Rayhana; Berdiev, Bakhrom K; Uddin, Mohammed