檢索結果 - Fuad Al-Mutairi

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    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden

    出版 2020
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    Artigo
  12. 12

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed

    出版 2020
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    Artigo
  13. 13

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden

    出版 2019
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    Artigo
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    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes 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

    出版 2017
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    Artigo
  15. 15

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif A. M. Almontashiri, Mohammed Al‐Owain, Hamad Alzaidan, Moeen Al-Sayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed El-Kalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa T. Tayeb, Asma I. Tahir, Fawzy Mohamed, Mohammed A. F. Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Al Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal A. Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid A. Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad A. Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, Syed A. Ahmed, Talal Algoufi, Hamoud Al‐Mousa, Emadia Alaki, Susan Alhumaidi, Hadeel Alghamdi, Malak Alghamdi, Ahmed N. Sahly, Shapar Nahrir, Ali Alahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Al‐Saud, Rand Arnaout, Ghada M. H. Abdel‐Salam, Hasan Al‐Dhekri, Suzan A. AlKhater, Khalid Alqadi, Essam Al‐Sabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Al‐Ashwal, Wajeeh Aldekhail, Sami Al-Hajjar, Sulaiman M. Al‐Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed M Al-Tala, Abdulhadi Altalhi, Salah Baz, Muddathir H. Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed Al Balwi, Nawal Makhseed

    出版 2019
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    Artigo
  16. 16

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif A. M. Almontashiri, Mohammed Al‐Owain, Hamad Alzaidan, Moeen Al-Sayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed El-Kalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa T. Tayeb, Asma I. Tahir, Mohamed Fawzy, Mohammed A. F. Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Al Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal A. Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid A. Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad A. Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, S. Faisal Ahmed, Talal Algoufi, Hamoud Al‐Mousa, Emadia Alaki, Susan Alhumaidi, Hadeel Alghamdi, Malak Alghamdi, Ahmed N. Sahly, Shapar Nahrir, Ali Alahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Al‐Saud, Rand Arnaout, Ghada M. H. Abdel‐Salam, Hasan Al‐Dhekri, Suzan A. AlKhater, Khalid Alqadi, Essam Al‐Sabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Al‐Ashwal, Wajeeh Aldekhail, Sami Al-Hajjar, Sulaiman M. Al‐Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed M Al-Tala, Abdulhadi Altalhi, Salah Baz, Muddathir H. Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed Al Balwi, Nawal Makhseed

    出版 2019
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