检索结果 - Eman Alobeid

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  1. 1
    A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

    A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition 由 Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    出版 2016
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  2. 2
    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly 由 Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel‐Salam, Inas S. M. Sayed, Anas M. Alazami, Tarfa Al‐Sheddi, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    出版 2019
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  3. 3
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics 由 Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa Al‐Sheddi, Eman Alobeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    出版 2020
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  4. 4
    Molecular autopsy in maternal–fetal medicine

    Molecular autopsy in maternal–fetal medicine 由 Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb A. Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Z. Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed M Kurdi, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El‐Akouri, Mariam Al Mulla, Tawfeg Ben‐Omran, Matthias Pergande, Sebahattin Çırak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S. Alkuraya

    出版 2017
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  5. 5
    The morbid genome of ciliopathies: an update

    The morbid genome of ciliopathies: an update 由 Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida, Dalal Bubshait, Hisham Alkuraya, Elham Almardawi, Ali Howaidi, Yasser Sabr, Ebtesam Abdalla, Abdullah Alfaifi, Jameel Alghamdi, Afaf Alsagheir, Ahmed Alfares, Heba Morsy, Maged H. Hussein, Mohammad A. Al–Muhaizea, Mohammad Shagrani, Essam Al Sabban, Mustafa A. Salih, Neama Meriki, Rubina Khan, Maisoon Almugbel, Alya Qari, Maha Tulba, Mohammed Mahnashi, Khalid Alhazmi, Abrar K. Alsalamah, Sawsan R. Nowilaty, Amal Alhashem, Mais Hashem, Firdous Abdulwahab, Niema Ibrahim, Tarfa Alshidi, Eman Alobeid, Mona Alenazi, Hamad Alzaidan, Zuhair Rahbeeni, Mohammed Al‐Owain, Sameera Sogaty, Mohammed Zain Seidahmed, Fowzan S. Alkuraya

    出版 2020
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  6. 6
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly 由 Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al‐Owain, Anas M. Alazami, Basma Abadel, Nisha Patel, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir H. Hamad, Brahim Tabarki, Ali H. Alwadei, Fahad Al-Hazzani, Fahad A. Bashiri, Amal Y. Kentab, Serdar Şahintürk, Elliott H. Sherr, Brieana Fregeau, Samira Sogati, Saad AlShahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Katta M. Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A. Salih, Mohamed Abouelhoda, Afaque A. Momin, Muna Al Saffar, Jennifer N. Partlow, Stefan T. Arold, Eissa Faqeih, Christopher A. Walsh, Fowzan S. Alkuraya

    出版 2018
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