Hasil Pencarian - Poh Hui Chia

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  1. 1
    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability oleh Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

    Diterbitkan 2018-05-01
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  2. 2
    A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

    A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing oleh Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade

    Diterbitkan 2023-02-01
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