Showing 1 - 2 results of 2 for search 'Rafiullah Rafiullah', query time: 0.02s Refine Results
  1. 1
    Identification and <i>In Silico</i> Analysis of a Homozygous Nonsense Variant in <i>TGM1</i> Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

    Identification and <i>In Silico</i> Analysis of a Homozygous Nonsense Variant in <i>TGM1</i> Gene Segregating with Congenital Ichthyosis in a Consanguineous Family by Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali

    Published 2023-01-01
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  2. 2
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations by Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

    Published 2024-05-01
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