Výsledky vyhledávání - Mohammed Al Balwi

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  1. 1
    Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

    Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome Autor Renata C. Gallagher, Birgit Pils, Mohammed Al Balwi, Uta Francke

    Vydáno 2002
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    Artigo
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  2. 2
    The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly

    The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly Autor J. Christopher Fromme, Mariella Ravazzola, Susan Hamamoto, Mohammed Al Balwi, Wafaa Eyaid, Simeon A. Boyadjiev, Pierre Cosson, Randy Schekman, Lelio Orci

    Vydáno 2007
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    Artigo
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  3. 3
    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 Autor Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid

    Vydáno 2016
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  4. 4
    Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

    Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta Autor Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman Alswaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Vydáno 2010
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  5. 5
    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... Autor 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

    Vydáno 2013
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    Revisão
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  6. 6
    ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

    ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies Autor Emma Webb, Angham Almutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L. Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad Talal Alrifai, Mohammed Al Balwi, Mohammed Al Balwi, Seyedeh Neda Mousavy-Gharavy, Biljana Lukovic, Derek Burke, Mark J. McCabe, Tessa Kasia, Robert Kleta, Elia Stupka, Philip L. Beales, Dorothy Thompson, W.K. Chong, Fowzan S. Alkuraya, Juan Pedro Martı́nez-Barberá, Jane C. Sowden, Mehul Dattani

    Vydáno 2013
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  7. 7
    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 Autor 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

    Vydáno 2018
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  8. 8
    Histopathology of Middle East respiratory syndrome coronovirus (<scp>MERS</scp>‐CoV) infection – clinicopathological and ultrastructural study

    Histopathology of Middle East respiratory syndrome coronovirus (<scp>MERS</scp>‐CoV) infection – clinicopathological and ultrastructural study Autor Khaled O. Alsaad, Ali H. Hajeer, Mohammed Al Balwi, Mohammed Al Moaiqel, Nourah Al Oudah, Abdulaziz Al Ajlan, Sameera Aljohani, Sami Alsolamy, Giamal Gmati, Hanan H. Balkhy, Hamdan Al‐Jahdali, Salim Baharoon, Yaseen M. Arabi

    Vydáno 2017
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  9. 9
    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 Autor 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

    Vydáno 2019
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  10. 10
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations Autor Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed Al Balwi, Ok-Hwa Kim, Tae‐Joon Cho, Gye‐Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniené, Ikuyo Kou, Masahiro Nakajima, H Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    Vydáno 2016
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  11. 11
    Clinical exome sequencing: results from 2819 samples reflecting 1000 families

    Clinical exome sequencing: results from 2819 samples reflecting 1000 families Autor 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

    Vydáno 2016
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  12. 12
    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders Autor Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir J. Braathen, Nataliya Di Donato, Elisa Rahikkala, Skadi Beblo, Martin Werber, Victor Krajka, Øyvind L. Busk, H. Baumann, Nouriya Al‐Sannaa, Frauke Hinrichs, Rabea Affan, N. Navot, Mohammed Al Balwi, Gabriela Oprea, Øystein L. Holla, Maximilian E. R. Weiss, Rami Abou Jamra, Anne‐Karin Kahlert, Shivendra Kishore, Kristian Tveten, Melissa Vos, Arndt Rolfs, Katja Lohmann

    Vydáno 2019
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  13. 13
    Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

    Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene Autor Johanna Uusimaa, Julie Evans, Conrad Smith, Anna Butterworth, Kate Craig, Neil Ashley, Chunyan Liao, Janet Carver, Alan Diot, Lorna Macleod, Iain Hargreaves, Abdulrahman Al‐Hussaini, Eissa Faqeih, Ali Asery, Mohammed Al Balwi, Wafaa Eyaid, Areej Al-Sunaid, Déirdre Kelly, Indra van Mourik, Sarah Ball, Joanna Jarvis, Arundhati Mulay, Nedim Hadžić, Marianne Samyn, Alastair Baker, Shamima Rahman, Helen Stewart, Andrew AM Morris, A Seller, Carl Fratter, Robert W. Taylor, Joanna Poulton

    Vydáno 2013
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  14. 14
    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 Autor 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

    Vydáno 2020
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  15. 15
    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Autor Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz

    Vydáno 2017
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  16. 16
    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 Autor 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

    Vydáno 2021
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  17. 17
    Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

    Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia Autor Christelle Tesson, Magdalena Nawara, Mustafa A. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schüle, Cyril Mignot, Émilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christelle Durand, Andrés Caballero-Oteyza, Khalid H. El-Hachimi, Abdulmajeed Al Drees, Naïma Bouslam, Foudil Lamari, Salah A. Elmalik, Mohammad M. Kabiraj, Mohammed Zain Seidahmed, Typhaine Esteves, Marion Gaussen, Marie-Lorraine Monin, Gàbor Gyapay, Doris Lechner, Michael Gonzalez, Christel Depienne, Fanny Mochel, Julie Lavie, Lüdger Schöls, Didier Lacombe, Mohamed Yahyaoui, Ibrahim Al Abdulkareem, Stephan Züchner, Atsushi Yamashita, Ali Benomar, Cyril Goizet, Alexandra Dürr, Joseph G. Gleeson, Frédéric Darios, Alexis Brice, Giovanni Stévanin

    Vydáno 2012
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  18. 18
    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism Autor John J. Reynolds, Louise S. Bicknell, Paula Carroll, Martin R. Higgs, Ranad Shaheen, Jennie Murray, Dimitrios K. Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R. Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M.A. Mottram, Clare V. Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S. Alsaif, Ariella Amar, Natalie J. Prescott, Michael B. Bober, Angela L. Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Y. Al‐Aama, Janine Altmüller, Mohammed Al Balwi, Angela F. Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, B Henderson, Emma Hobson, Peter Nürnberg, E. Ferda Perçin, Angela Peron, Luigina Spaccini, Alan J. Quigley, Seema Thakur, Carol A. Wise, Grace Yoon, Maha Alnemer, Pavel Tomančák, Gökhan Yigit, A. Malcolm R. Taylor, Martin A.M. Reijns, Michael A. Simpson, David Cortez, Fowzan S. Alkuraya, Christopher G. Mathew, Andrew P. Jackson, Grant S. Stewart

    Vydáno 2017
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  19. 19
    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Autor 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

    Vydáno 2019
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  20. 20
    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Autor 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

    Vydáno 2019
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