Výsledky vyhledávání - Tarfa Al‐Sheddi

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  1. 1
    Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

    Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome Autor Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya

    Vydáno 2011
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    Artigo
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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 Autor 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

    Vydáno 2019
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    Artigo
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  3. 3
    Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

    Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism Autor Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al‐Falki, Saleh M. Al‐Qahtani, Tarfa Al‐Sheddi, Dilek Çolak, Fowzan S. Alkuraya

    Vydáno 2012
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    Artigo
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  4. 4
    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism Autor Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al‐Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al‐Mohanna, Fowzan S. Alkuraya

    Vydáno 2012
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    Artigo
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  5. 5
    Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

    Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay Autor Moeenaldeen AlSayed, Hamad Alzaidan, Albandary AlBakheet, Hana Hakami, Rosan Kenana, Yusra Alyafee, Mazhor Aldosary, Alya Qari, Tarfa Al‐Sheddi, Muhammed Al-Muheiza, Wafa Al-Qubbaj, Yamina Lakmache, Hindi Al‐Hindi, Muhammad Ghaziuddin, Dilek Çolak, Namik Kaya

    Vydáno 2013
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  6. 6
    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 Autor 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

    Vydáno 2020
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  7. 7
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly Autor 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

    Vydáno 2018
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