Torthaí cuardaigh - Muhammad Imran Shabbir

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  1. 1
    Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

    Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes de réir Jahangir Khan Tareen, Hamid Khan, Shamsul Ghani, Saeed Khan, Bakhtawar Khan, Yurong Wu, Muhammad Ajmal Khan, Syed Shahab Ud Din Shah, Abrar Hussain, Mubin Mustafa Kiyani, Shahid Bashir, Atta Ur Rehman, Muhammad Imran Shabbir, Hong-Tao Li

    Foilsithe / Cruthaithe 2025-01-01 Faigh an téacs iomlán
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  2. 2
    Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

    Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes. de réir Jahangir Khan Tareen, Hamid Khan, Shamsul Ghani, Saeed Khan, Bakhtawar Khan, Yurong Wu, Muhammad Ajmal Khan, Syed Shahab Ud Din Shah, Abrar Hussain, Mubin Mustafa Kiyani, Shahid Bashir, Atta Ur Rehman, Muhammad Imran Shabbir, Hong-Tao Li

    Foilsithe / Cruthaithe 2025-01-01

    This study investigates the genetic basis of retinal diseases in four consanguineous families from Pakistan, focusing on mutations in the CNGA3, CACNA1F, and RPGRIP1 genes that are implicated in retinal dysfunctions such as achromatopsia, congenital stationary night blindness, and retinal dystrophie...

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