Risultati della ricerca - Hanan E. Shamseldin

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  1. 1
    Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

    Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing di Hanan E. Shamseldin, Abdulrahman Swaid, Fowzan S. Alkuraya

    Pubblicazione 2012
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  2. 2
    Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

    Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1 di Hanan E. Shamseldin, Mohamed Ahmed Elfaki, Fowzan S. Alkuraya

    Pubblicazione 2012
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  3. 3
    MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

    MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts di Abdulrahman Alsultan, Hanan E. Shamseldin, Mohamed Elfaki Osman, Mansour Aljabri, Fowzan S. Alkuraya

    Pubblicazione 2013
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  4. 4
    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder di Hanan E. Shamseldin, Alexis H. Bennett, Majid Alfadhel, Vandana Gupta, Fowzan S. Alkuraya

    Pubblicazione 2016
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  5. 5
    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy di Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya

    Pubblicazione 2015
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  6. 6
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy di Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S. Alkuraya

    Pubblicazione 2016
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  7. 7
    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome di Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Alshidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

    Pubblicazione 2013
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  8. 8
    GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

    GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition di Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N. Patil, Niema Ibrahim, Kirill A. Martemyanov, Fowzan S. Alkuraya

    Pubblicazione 2016
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  9. 9
    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 di Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya

    Pubblicazione 2011
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  10. 10
    Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

    Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans di Hanan E. Shamseldin, Laura L. Smith, Amal Y. Kentab, Hisham Alkhalidi, Brady J. Summers, Haifa Alsedairy, Yong Xiong, Vandana Gupta, Fowzan S. Alkuraya

    Pubblicazione 2015
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  11. 11
    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden di Mohamed Abouelhoda, Turki M. Sobahy, Mohamed El-Kalioby, Nisha Patel, Hanan E. Shamseldin, Dorota Monies, Nada Al Tassan, Khushnooda Ramzan, Faiqa Imtiaz, Ranad Shaheen, Fowzan S. Alkuraya

    Pubblicazione 2016
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  12. 12
    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder di Hanan E. Shamseldin, Ali Alasmari, Mohammed A. Salih, Manar Samman, Shahzad I. Mian, Tarfa Alshidi, Niema Ibrahim, Mais Hashem, Eissa Faqeih, Futwan Al‐Mohanna, Fowzan S. Alkuraya

    Pubblicazione 2017
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  13. 13
    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans di Hanan E. Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward D. Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Jacek Majewski, François Bernier, Fowzan S. Alkuraya

    Pubblicazione 2015
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  14. 14
    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism di 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

    Pubblicazione 2012
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  15. 15
    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families di Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

    Pubblicazione 2015
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  16. 16
    Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency

    Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency di Mohammed F. Alosaimi, Manfred Hoenig, Faris Jaber, Craig D. Platt, Jennifer Jones, Jacqueline G. Wallace, Klaus‐Michael Debatin, Ansgar Schulz, E. Jacobsen, Peter M√oller, Hanan E. Shamseldin, Ferdous Abdulwahab, Niema Ibrahim, Hosam Alardati, Faisal ALMuhizi, Ibraheem Abosoudah, Talal A. Basha, Janet Chou, Fowzan S. Alkuraya, Raif S. Geha

    Pubblicazione 2019
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  17. 17
    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome di Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela Ferraz Leal, Bruno Dallapiccola, Franco A. Carnevale, Maria Bitner‐Glindzicz, Melissa Lees, Raoul C. M. Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S. Alkuraya, Philip L. Beales

    Pubblicazione 2011
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  18. 18
    Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

    Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans di Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks, Mohammed Zain Seidahmed, Shinu Ansari, M. I. Khalil, Nadya Al‐Yacoub, Erica E. Davis, Natalie Mola, Katarzyna Szymańska, Warren Herridge, Albert E. Chudley, Bernard N. Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A. Johnson, Jillian S. Parboosingh, Kym M. Boycott, A. Micheil Innes, Fowzan S. Alkuraya

    Pubblicazione 2013
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  19. 19
    Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

    Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort di Ranad Shaheen, Nisha Patel, Hanan E. Shamseldin, Fatema Alzahrani, Ruah Alyamany, Agaadir Al Moisheer, Nour Ewida, Shamsa Anazi, Maha Alnemer, Mohamed A. El‐Sheikh, Khaled Alfaleh, Muneera J. Alshammari, Amal Alhashem, Abdullah Alangari, Mustafa A. Salih, Martin Kircher, Riza M. Daza, Niema Ibrahim, Salma M. Wakil, Ahmed Alaqeel, Ikhlas Altowaijri, Jay Shendure, Amro Al-Habib, Eissa Faqieh, Fowzan S. Alkuraya

    Pubblicazione 2015
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  20. 20
    A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

    A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance di Raghu R. Chivukula, Daniel T. Montoro, Hui Min Leung, Jason Yang, Hanan E. Shamseldin, Martin S. Taylor, Gerard W. Dougherty, Maimoona A. Zariwala, Johnny L. Carson, M. Leigh Anne Daniels, Patrick R. Sears, Katharine E. Black, Lida P. Hariri, Ibrahim Al‐Mogarri, Evgeni M. Frenkel, Vladimír Vinarský, Heymut Omran, Michael R. Knowles, Guillermo J. Tearney, Fowzan S. Alkuraya, David M. Sabatini

    Pubblicazione 2020
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