Search Results - Brahim Tabarki

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  1. 1
    Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort study

    Detrimental effect of antiepileptic drugs dose in pediatric children with epilepsy in Saudi Arabia: A prospective cohort study by Alotaibi, Badriyah S., Alodhayani, Abdulaziz A., Alwan, Ashraf, Alotaibi, Khalid Nijr, Melaiki, Brahim Tabarki, Almadhi, Aljawharah Mohammad, Alfares, Lulwah Haitham, Alalkami, Nahlah Ahmed

    Published 2021
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  2. 2
    A gene encoding a putative FAD-dependent <scp>l</scp> -2-hydroxyglutarate dehydrogenase is mutated in <scp>l</scp> -2-hydroxyglutaric aciduria

    A gene encoding a putative FAD-dependent <scp>l</scp> -2-hydroxyglutarate dehydrogenase is mutated in <scp>l</scp> -2-hydroxyglutaric aciduria by Rzem Rim, Maria Veiga‐da‐Cunha, G. Noël, S. Goffette, Marie‐Cécile Nassogne, Brahim Tabarki, Christina Schöller, Thorsten Marquardt, Miikka Vikkula, Emile Van Schaftingen

    Published 2004
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  3. 3
    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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  4. 4
    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

    RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans by Hanan E. Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward D. Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan E. Lamont, Jacek Majewski, François Bernier, Fowzan S. Alkuraya

    Published 2015
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome by Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia E. C. van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn A. Huynen, Marius Ueffing, Robert B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

    Published 2015
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  9. 9
    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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  10. 10
    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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  11. 11
    Expanding the genetic heterogeneity of intellectual disability

    Expanding the genetic heterogeneity of intellectual disability by Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T. Asi, Saud Alsahli, Amal Alhashem, Hanan E. Shamseldin, Fatema Alzahrani, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadia Alhashmi, Fathiya Al Murshedi, Adila Al Kindy, Ahmad Alshaer, Ahmed Al Rumayyan, Saeed Al Tala, Wesam Kurdi, Abdulaziz Alsaman, Ali Alasmari, Selina Banu, Tipu Sultan, Mohammed M. Saleh, Hisham Alkuraya, Mustafa A. Salih, Hesham Aldhalaan, Tawfeg Ben‐Omran, Fatima Al Musafri, Rehab Ali, Jehan Suleiman, Brahim Tabarki, Ayman W. El‐Hattab, Caleb Bupp, Majid Alfadhel, Nada Al Tassan, Dorota Monies, Stefan T. Arold, Mohamed Abouelhoda, Tammaryn Lashley, Henry Houlden, Eissa Faqeih, Fowzan S. Alkuraya

    Published 2017
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  12. 12
    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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  13. 13
    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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  14. 14
    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin‐Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García‐Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Öztürk Hişmi, Tomáš Honzík, Oya Kuseyri Hübschmann, Wuh‐Liang Hwu, Salvador Ibáñez‐Micó, Kathrin Jeltsch, Natalia Juliá‐Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kuśmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Ong, Thomas Opladen, Mari Oppebøen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut‐Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, J Zeman, Nenad Blau

    Published 2023
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  15. 15
    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Afaf Alsagheir, Ahmad M. Mansour, Ali Alawaji, Amal Aldhilan, Amal Alhashem, Amal Al‐Hemidan, Amira Nabil, Arif O. Khan, Aziza Aljohar, Badr Alsaleem, Brahim Tabarki, Charles Marques Lourenço, Eissa Faqeih, Essam Al Shail, Fatima Almesaifri, Fuad Al Mutairi, Hamad Alzaidan, Heba Morsy, Hind Alshihry, Hisham Alkuraya, Katta M. Girisha, Khawla Al-Fayez, Khalid Al‐Rubeaan, Lilia Kraoua, Maha Alnemer, Maha Tulbah, Maha S. Zaki, Majid Alfadhel, Mohammed Abouelhoda, Marjan M. Nezarati, Mohammad M. Al‐Qattan, Mohammad Shboul, Mohammed Abanemai, Mohammad A. Al–Muhaizea, Mohammed Al‐Owain, Mohammed Sameer Bafaqeeh, Muneera J. Alshammari, Musaad Abukhalid, Nada Alsahan, Nada Derar, Neama Meriki, Saeed Bohlega, Saeed Al Tala, Saad S. M. Hassan, Sami Wali, Sarar Mohamed, Serdar Coşkun, Sermin Saadeh, Tinatin Tkemaladze, Wesam Kurdi, Zainab Alhumaidi, Zuhair Rahbeeni, Fowzan S. Alkuraya

    Published 2023
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  16. 16
    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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