Search Results - Saad AlShahwan

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  1. 1
    Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

    Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase by Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan, Eman Bakhsh, P Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D’Adamo, Paolo Gasparini, Massimo Zeviani

    Published 2008
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  2. 2
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies by 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

    Published 2016
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  3. 3
    Autozygome and high throughput confirmation of disease genes candidacy

    Autozygome and high throughput confirmation of disease genes candidacy by Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain, Mohammad A. Al Muhaizea, Husam Kayyali, Amal Alhashem, Zuhair Rahbeeni, Maha Alotaibi, Hamad Alzaidan, Ameera Balobaid, Heba Y. El Khashab, Dalal Bubshait, Maha Faden, Suad Al Yamani, Omar Dabbagh, Mariam Almureikhi, Abdulla Al Jasser, Hessa S. Alsaif, Iram Alluhaydan, Mohammed Zain Seidahmed, Bashair Alabbasi, Ibrahim Al‐Mogarri, Wesam Kurdi, Hana Akleh, Alya Qari, Saeed M. Al Tala, Suzan Alhomaidi, Amal Y. Kentab, Mustafa A. Salih, Aziza Chedrawi, Seham Alameer, Brahim Tabarki, Hanan E. Shamseldin, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Menasria Samira, Ewa Goljan, Mohamed Abouelhoda, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Saad AlShahwan, Majid Alfadhel, Tawfeg Ben‐Omran, Mohammad M. Al‐Qattan, Dorota Monies, Fowzan S. Alkuraya

    Published 2018
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  4. 4
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly by 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

    Published 2018
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  5. 5
    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 by 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

    Published 2014
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  6. 6
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes by Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al‐Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Al‐Younes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K. Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al‐Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid A. Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al‐Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Al‐Dhekri, Ali Almehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal AlQassmi, Maisoon Almugbel, Mohammed Alquaiz, Abdulaziz Alsaman, Khalid Al‐Thihli, Raashda A. Sulaiman, Wajeeh Aldekhail, Abeer Al‐Saegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Al‐Sebayel, Muddathir H. Hamad, László Szönyi, Faisal Abaalkhail, Sulaiman M. Al‐Mayouf, Hamad Al‐Mojalli, Khalid Alqadi, Hussien Elsiesy, Taghreed Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz Al‐Ghonaium, Turki M. Al-Kharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh Sheikh, Fahad Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed M.I. Khalil, Brahim Tabarki, Saad AlShahwan, Oshi Amira, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal Bubshait, Majid Alfadhel

    Published 2017
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