检索结果 - Paracha, Sohail Aziz

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    Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

    Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder 由 Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad

    出版 2021
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    Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

    Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature 由 Ansar, Muhammad, Paracha, Sohail Aziz, Serretti, Alessandro, Sarwar, Muhammad T, Khan, Jamshed, Ranza, Emmanuelle, Falconnet, Emilie, Iwaszkiewicz, Justyna, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Santoni, Federico A, Zoete, Vincent, Megarbane, Andre, Ahmed, Jawad, Colombo, Roberto, Makrythanasis, Periklis, Antonarakis, Stylianos E

    出版 2019
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