Resultats de la cerca - Anas M. Alazami

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  1. 1
    A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

    A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) per Anas M. Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S. Alkuraya

    Publicat 2011
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  2. 2
    TLE6 mutation causes the earliest known human embryonic lethality

    TLE6 mutation causes the earliest known human embryonic lethality per Anas M. Alazami, Salma Awad, Serdar Coşkun, Saad S. M. Hassan, Hadia Hijazi, Firdous Abdulwahab, Coralie Poizat, Fowzan S. Alkuraya

    Publicat 2015
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  3. 3
    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome per Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, L.I. Al-Gazali, Fowzan S. Alkuraya

    Publicat 2009
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  4. 4
    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly per 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

    Publicat 2019
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  5. 5
    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 per 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

    Publicat 2012
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  6. 6
    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans per 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

    Publicat 2015
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  7. 7
    Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

    Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency per Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al‐Saud, Huda Alajlan, Dorota Monies, Zeeshan Shah, Mohamed Abouelhoda, Rand Arnaout, Hasan Al‐Dhekri, Nouf S. Al‐Numair, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al‐Mousa

    Publicat 2018
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  8. 8
    Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

    Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome per Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Çolak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al‐Mohanna, Brian F. Meyer, Fowzan S. Alkuraya

    Publicat 2008
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  9. 9
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number per Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed S. Al‐Dosari, Anas M. Alazami, Mohammed Al‐Owain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh

    Publicat 2014
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  10. 10
    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance per Zinan Zhang, Florian Gothe, Perrine Pennamen, John R. James, David McDonald, Carlos P. Mata, Yorgo Modis, Anas M. Alazami, Meghan Acres, Wolfram Haller, Claire Bowen, Rainer Döffinger, Jan Sinclair, Shannon Brothers, Yu Zhang, Helen Matthews, Sophie Naudion, Fanny Pelluard, Huda Alajlan, Yasuhiro Yamazaki, Luigi D. Notarangelo, James Thaventhiran, Karin R. Engelhardt, Hamoud Al‐Mousa, Sophie Hambleton, Caroline Rooryck, Kenneth G. C. Smith, Michael J. Lenardo

    Publicat 2019
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  11. 11
    PAX1 is essential for development and function of the human thymus

    PAX1 is essential for development and function of the human thymus per Yasuhiro Yamazaki, Raúl Urrutia, Luis M. Franco, Silvia Giliani, Kejian Zhang, Anas M. Alazami, Kerry Dobbs, Stefania Masneri, Avni Y. Joshi, Francisco Otaizo‐Carrasquero, Timothy G. Myers, Sundar Ganesan, Maria Pia Bondioni, Mai‐Lan Ho, Catherine Marks, Huda Alajlan, Reem Mohammed, Fanggeng Zou, C. Alexander Valencia, Alexandra H. Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander Al-Saud, Hamoud Al‐Mousa, Jean‐Laurent Casanova, Roshini S. Abraham, Luigi D. Notarangelo

    Publicat 2020
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  12. 12
    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome per Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia E. C. van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn A. Huynen, Marius Ueffing, Robert B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

    Publicat 2015
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  13. 13
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies per Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

    Publicat 2016
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  14. 14
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly per 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

    Publicat 2018
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  15. 15
    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

    Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families per Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al‐Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera J. Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al‐Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad‐Hani Temsah, Maha Tulbah, Rasha Aljelaify, Saad AlShahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al‐Hassnan, Ghada M. H. Abdel‐Salam, Nouriya Al‐Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman Aldeeri, Dorota Monies, Fowzan S. Alkuraya

    Publicat 2014
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  16. 16
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia per Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Publicat 2018
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