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of 2
pro vyhledávání: '"Bakhrom K. Berdeiv"'
Autor:
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O’Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
Abstract Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with
Externí odkaz:
https://doaj.org/article/be7577baefe0449d9e32b34e4247a672
Autor:
Mazharul Islam, Ghausia Begum, Tahrima Arman Tusty, Nushrat Jahan Dity, Shaoli Sarkar, Marc Woodbury-Smith, Hosneara Akter, Md. Atikur Rahaman, Mohammed Uddin, Bakhrom K. Berdeiv, Reem Abdel Hameid, Mohammad Basiruzzaman, K. M. Furkan Uddin, Sharmin Jahan, Darren D. O’Rielly, Elaine T. Lim, Mohammed Nazmul Ahsan, A.H.M. Nurun Nabi, Stephen W. Scherer, Mohammad Shahnoor Hossain, Dimitri J. Stavropoulos, Nasna Nassir, Muhammad Sougatul Islam
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
NPJ Genomic Medicine
NPJ Genomic Medicine
Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare gene