Search Results - Majid Alfadhel

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  1. 1
    Carnitine Inborn Errors of Metabolism

    Carnitine Inborn Errors of Metabolism by Mohammed Almannai, Majid Alfadhel, Ayman W. El‐Hattab

    Published 2019
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  2. 2
    Clinical Genetics of Polydactyly: An Updated Review

    Clinical Genetics of Polydactyly: An Updated Review by Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Wasim Ahmad, Majid Alfadhel

    Published 2018
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  3. 3
    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder by Hanan E. Shamseldin, Alexis H. Bennett, Majid Alfadhel, Vandana Gupta, Fowzan S. Alkuraya

    Published 2016
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  4. 4
    Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

    Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia by Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid

    Published 2016
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  5. 5
    Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

    Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia by Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel

    Published 2021
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  6. 6
    Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

    Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findi... by Majid Alfadhel, Makki Almuntashri, Raafat Hammad Seroor Jadah, Fahad A. Bashiri, Mahmoud Al Rifai, Hisham Al Shalaan, Mohammed Al Balwi, Ahmed Al Rumayan, Wafaa Eyaid, Waleed Altwaijri

    Published 2013
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  7. 7
    The landscape of early infantile epileptic encephalopathy in a consanguineous population

    The landscape of early infantile epileptic encephalopathy in a consanguineous population by Marwan Nashabat, Xena Al Qahtani, Salwa Almakdob, Waleed Altwaijri, Duaa Baarmah, Khalid Hundallah, Amal Al Hashem, Saeed Al Tala, Sateesh Maddirevula, Fowzan S. Alkuraya, Brahim Tabarki, Majid Alfadhel

    Published 2019
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  8. 8
    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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  9. 9
    Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

    Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing by Ahmed Alfares, Taghrid Aloraini, Lamia Al subaie, Abdulelah AlIssa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Mohammed Al Balwi, Saeed Al-Turki, Majid Alfadhel

    Published 2018
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  10. 10
    Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

    Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach by Yusra Alyafee, Abeer Al Tuwaijri, Muhammad Umair, Mashael Alharbi, Shahad Haddad, Maryam Ballow, Latifah Alayyar, Qamre Alam, Saleh Althenayyan, Nadia Al Ghilan, Aziza Al Khaldi, Majid S. Faden, Hamad Al Sufyan, Majid Alfadhel

    Published 2022
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  11. 11
    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors by Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

    Published 2017
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  12. 12
    Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)

    Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome) by Majid Alfadhel, Bashayr S. Alhubayshi, Muhammad Umair, Ahmed Mohammed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad A. Almohrij, Sultan Al‐Khenaizan

    Published 2025
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  13. 13
    Targeted <i>SLC19A3</i> gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

    Targeted <i>SLC19A3</i> gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening by Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman Almohaimeed, Maher A. Almashary, W. Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al‐Odaib, Waleed Altwaijri, Ahmed Al‐Rumayyan, Muhammad Talal Alrifai, Ahmed Alfares, Mohammed Al Balwi, Brahim Tabarki

    Published 2019
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  14. 14
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects by Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    Published 2017
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  15. 15
    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development by Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F. Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J. Guzmán‐Vega, Miki Obata, Yoshinobu Ichimura, Hessa S. Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F. Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T. Arold, C. Geoffrey Woods, Masaaki Komatsu, Fowzan S. Alkuraya

    Published 2018
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  16. 16
    Clinical exome sequencing: results from 2819 samples reflecting 1000 families

    Clinical exome sequencing: results from 2819 samples reflecting 1000 families by Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Maximilian E. R. Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, José María García-Aznar, Martin Werber, Oliver Brandau, María Calvo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad T. Al Rifai, Ahmed Al‐Rumayyan, Waleed Altwaijri, Ali Alothaim, Amal Alhashem, Nouriya Al‐Sannaa, Mohammed Al Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra

    Published 2016
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  17. 17
    Mutations in<i>ELAC2</i>associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

    Mutations in<i>ELAC2</i>associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing by Makenzie Saoura, Christopher A. Powell, Robert Kopajtich, Ahmad Alahmad, Haya H. Al‐Balool, Buthaina Albash, Majid Alfadhel, Charlotte L. Alston, Enrico Bertini, Penelope E. Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria Alice Donati, Michela Di Nottia, Daniele Ghezzi, Amy B. Goldstein, Eric Haan, Rita Horváth, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla‐Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo‐Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W. Taylor, Louis Levinger, Michal Minczuk

    Published 2019
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  18. 18
    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

    KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases by Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy, Puneet Jain, Kollencheri Puthenveettil Vinayan, Musaad Abukhalid, Hesham Aldhalaan, Hanin S. Almuzaini, Sheffali Gulati, Tova Hershkovitz, Ramesh Konanki, Lokesh Lingappa, Aimée F. Luat, Shatha Shafi, Brahim Tabarki, Maya Thomas, Sangeetha Yoganathan, Majid Alfadhel, Ravindra Arya, Elizabeth Donner, Salleh N. Ehaideb, Vykuntaraju K. Gowda, Vivek Jain, Priyanka Madaan, Kenneth A. Myers, Hiroshi Otsubo, Prateek Kumar Panda, Jitendra Kumar Sahu, Leticia P. B Sampaio, Suvasini Sharma, Elisabeth Simard‐Tremblay, Maria Zak, Robyn Whitney

    Published 2020
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  19. 19
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort by Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, María Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego‐Álvarez, Michal Zawada, Krishna Kumar Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius‐Ionuţ Iuraşcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha Al‐Shamsi, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed Al Balwi, Majid Alfadhel, Nouriya Al‐Sannaa, William Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer

    Published 2020
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  20. 20
    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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