Хайлтын үр дүнгүүд - Jawahir Y. Mohamed

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  1. 1
    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly -н Jawahir Y. Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, Muneera J. Alshammari, Niema Ibrahim, Fowzan S. Alkuraya

    Хэвлэсэн 2013
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    Artigo
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  2. 2
    Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

    Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus -н Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed Hussien Alghamdi, Fowzan S. Alkuraya

    Хэвлэсэн 2012
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    Artigo
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  3. 3
    The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in<i>ADAMTS18</i>

    The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in<i>ADAMTS18</i> -н Mohammed A. Aldahmesh, Muneera J. Alshammari, Arif O. Khan, Jawahir Y. Mohamed, Fatimah A. Alhabib, Fowzan S. Alkuraya

    Хэвлэсэн 2013
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    Artigo
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  4. 4
    Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

    Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes -н Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Hadia Hijazi, Mohammed Al‐Owain, Abdulrahman Alswaid, Fowzan S. Alkuraya

    Хэвлэсэн 2012
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  5. 5
    Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

    Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia -н Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham Alkuraya, Ishwar C. Verma, Ratna Dua Puri, Ayodele Alaiya, William B. Rizzo, Fowzan S. Alkuraya

    Хэвлэсэн 2011
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  6. 6
    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome -н Nisha Patel, Arif O. Khan, Ahmad M. Mansour, Jawahir Y. Mohamed, Abdullah Al-Assiri, Randa Haddad, Xiaofei Jia, Yong Xiong, André Mégarbané, Elias I. Traboulsi, Fowzan S. Alkuraya

    Хэвлэсэн 2014
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  7. 7
    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans -н Mohammed A. Aldahmesh, Arif O. Khan, Hisham Alkuraya, Nouran Adly, Shamsa Anazi, Ahmed A. Al-Saleh, Jawahir Y. Mohamed, Hadia Hijazi, Sarita Prabakaran, Marlene Tacke, Abdullah Al-Khrashi, Mais Hashem, Thomas Reinheckel, Abdullah M. Assiri, Fowzan S. Alkuraya

    Хэвлэсэн 2013
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  8. 8
    In search of triallelism in Bardet–Biedl syndrome

    In search of triallelism in Bardet–Biedl syndrome -н Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair N. Al‐Hassnan, Basim Alkuraya, Jawahir Y. Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Alhashem, Sami Wali, Zuhair Rahbeeni, Moeen Al-Sayed, Arif O. Khan, Lihadh Al‐Gazali, Peter E.M. Taschner, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Хэвлэсэн 2012
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    Artigo
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  9. 9
    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 -н 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

    Хэвлэсэн 2014
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    Artigo
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  10. 10
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia -н 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

    Хэвлэсэн 2018
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    Artigo
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