Arama Sonuçları - Hadia Hijazi

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  1. 1
    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 Yazar: Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Hadia Hijazi, Mohammed Al‐Owain, Abdulrahman Alswaid, Fowzan S. Alkuraya

    Baskı/Yayın Bilgisi 2012
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  2. 2
    TLE6 mutation causes the earliest known human embryonic lethality

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

    Baskı/Yayın Bilgisi 2015
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  3. 3
    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans Yazar: 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

    Baskı/Yayın Bilgisi 2013
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  4. 4
    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease Yazar: Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tülay Tos, Zehra Yavaş Abalı, Bülent Hacıhamdioğlu, Zeynep H. Coban Akdemir, Hadia Hijazi, Serpil Baş, Zeynep Atay, Tülay Güran, Saygın Abalı, Firdevs Baş, Feyza Darendelıler, Roberto Colombo, Tahsin Stefan Barakat, Tuula Rinne, Janson J. White, Gözde Yeşil, Alper Gezdirici, Elif Yılmaz Güleç, Ender Karaca, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Şükran Poyrazoğlu, Abdullah Bereket, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski

    Baskı/Yayın Bilgisi 2019
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  5. 5
    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome Yazar: Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Bárbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, P.A.L. Wight, Pankaj Patyal, Jennifer R. Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehli̇van, Claudia M.B. Carvalho, Grace M. Hobson, James R. Lupski

    Baskı/Yayın Bilgisi 2019
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  6. 6
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Yazar: Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç, Hatice Koçak Eker, Silvia R. Costa, Yavuz Şahin, Zeynep Ocak, Sedat Işıkay, Özge Özalp, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Nursel Elçioǧlu, Débora Romeo Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gülsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban‐Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehli̇van, Richard A. Gibbs, James R. Lupski

    Baskı/Yayın Bilgisi 2022
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  7. 7
    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 Yazar: 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

    Baskı/Yayın Bilgisi 2014
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