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  1. 1
    Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

    Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia by Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M. Sain, Muhammad Jawad Khan, Muhammad Umair, Muhammad Umair

    Published 2023-01-01
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  2. 2
    Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

    Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families by Angham Abdulrhman Abdulkareem, Angham Abdulrhman Abdulkareem, Qaiser Zaman, Qaiser Zaman, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Muhammad Imran Naseer, Musharraf Jelani

    Published 2023-06-01
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