Search Results - Zuhair N. Al‐Hassnan

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  1. 1
    Genomic analysis of primordial dwarfism reveals novel disease genes

    Genomic analysis of primordial dwarfism reveals novel disease genes by Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada M. H. Abdel‐Salam, Zuhair N. Al‐Hassnan, Tarfa Alshidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya

    Published 2014
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  2. 2
    Guidelines for acute management of hyperammonemia in the Middle East region

    Guidelines for acute management of hyperammonemia in the Middle East region by Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, Fatma Al Jasmi, Khalid Al‐Thihli, Emtithal Aljishi, Moeen Al-Sayed, Zuhair N. Al‐Hassnan, Fathiya Al Murshedi, Johannes Häberle, Tawfeg Ben‐Omran

    Published 2016
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  3. 3
    Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

    Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry by Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Clinton Llerena, Zuhair N. Al‐Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin‐Hsiu Chien

    Published 2023
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  4. 4
    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes by Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Published 2012
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  5. 5
    Genetic Mosaicism in Calmodulinopathy

    Genetic Mosaicism in Calmodulinopathy by Lisa M. Wren, Juan Jiménez‐Jáimez, Saleh AlGhamdi, Jumana Y. Al‐Aama, Amnah Bdeir, Zuhair N. Al‐Hassnan, Jyn Ling Kuan, Roger Foo, F Potet, Christopher N. Johnson, Miriam C. Aziz, Gemma L. Carvill, Juan Pablo Kaski, Lia Crotti, Francesca Perín, Lorenzo Monserrat, Paul W. Burridge, Peter J. Schwartz, Walter Chazin, Zahurul A. Bhuiyan, Alfred L. George

    Published 2019
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  6. 6
    In search of triallelism in Bardet–Biedl syndrome

    In search of triallelism in Bardet–Biedl syndrome by 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

    Published 2012
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  7. 7
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction by Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    Published 2025
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  8. 8
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders by Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Al Balwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

    Published 2021
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  9. 9
    Molecular and clinical spectra of FBXL4 deficiency

    Molecular and clinical spectra of FBXL4 deficiency by Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed Elamin, Majid Alfadhel, Fowzan S. Alkuraya, Mais Hashem, Mazhor Aldosary, Rawan Almass, Faten Almutairi, Maysoon Alsagob, Mohammed Al‐Owain, Shirin Al-Sharfa, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Nawal Makhseed, Gretchen Kissel Foskett, David A. Stevenson, Natalia Gomez‐Ospina, Chung Lee, Richard G. Boles, Samantha A. Schrier Vergano, Saskia B. Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F. Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr, Wenyaw Chan, Namik Kaya, Lee‐Jun C. Wong

    Published 2017
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  10. 10
    Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

    Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry by Lia Crotti, Carla Spazzolini, David J. Tester, Alice Ghidoni, Alban‐Elouen Baruteau, Britt Maria Beckmann, Elijah R. Behr, Jeffrey S. Bennett, Connie R. Bezzina, Zahurul A. Bhuiyan, Alpay Çeliker, Marina Cerrone, Federica Dagradi, Gaetano Maria De Ferrari, Susan P. Etheridge, Meena Fatah, Pablo García‐Pavía, Saleh Alghamdi, Robert M. Hamilton, Zuhair N. Al‐Hassnan, Minoru Horie, Juan Jiménez‐Jáimez, Ronald J. Kanter, Juan Pablo Kaski, Maria‐Christina Kotta, Najim Lahrouchi, Naomasa Makita, Gabrielle Norrish, Hans Henrik Odland, Seiko Ohno, John Papagiannis, Gianfranco Parati, Nicole Sekarski, Kristian Tveten, Matteo Vatta, Gregory Webster, Arthur A.M. Wilde, Julianne Wojciak, Alfred L. George, Michael J. Ackerman, Peter J. Schwartz

    Published 2019
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  11. 11
    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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  12. 12
    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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