Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Abdulaziz Al-Saman"'
Autor:
Ahmed K. Bamaga, Fouad Alghamdi, Nahla Alshaikh, Waleed Altwaijri, Fahad A. Bashiri, Khalid Hundallah, Musaad Abukhaled, Osama Y. Muthaffar, Sameer Al-Mehmadi, Tahani Ahmed Jamaly, Mohammad A. Al-Muhaizea, Abdulaziz Al-Saman
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: The coronavirus disease 2019 (COVID-19) pandemic has caused overwhelming challenges in healthcare worldwide. During such an outbreak, some needs of high-risk groups who require regular follow-ups and long-term management are not met. The
Externí odkaz:
https://doaj.org/article/7afbdcab69a64029b4233f05a7e46459
Autor:
Cristina Skrypnyk, Abubaker Al Madani, Mohammed Jan, André Mégarbané, Khalid Al Thihli, Ali Al Shehri, Abdulaziz Al Saman, Mohammad Al Muhaizea, Waseem Fathalla, Andoni Urtizberea, Gholamreza Zamani, Sylvie Tuffery-Giraud, Carlos Ignacio Ortez González, Pawan Kashyape, Ahmed Al Rumayyan, Edward Cupler, Laila Bastaki, Mohammed Al Jumah, Gururaj Aithala Kodavooru
Publikováno v:
Neurodegenerative Disease Management
Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to addr
Autor:
Abdulaziz Al-Saman, Mohammed Almannai, Matthew A. Lines, Amal Alhashem, Panagiotis Katsonis, Yaser I. Aljadhai, Julia Wang, Brahim Tabarki, Ayman W. El-Hattab, Mohammed A. Saleh, Adel A H Mahmoud, Ruba Benini, Dorothy K. Grange, Ali H Alwadei, Eissa Faqeih, Lee-Jun C. Wong, Hongzheng Dai, Ali Al Asmari, Olivier Lichtarge
Publikováno v:
Molecular Genetics and Metabolism. 125:281-291
An increasing number of mitochondrial diseases are found to be caused by pathogenic variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes mitochondrial phenylalanyl-tRNA synthetase (mtPheRS) which transfers phenylalanine
Autor:
Fouad, Alghamdi, Nahla, Alshaikh, Ahmed K, Bamaga, Fahad A, Bashiri, Khalid, Hundallah, Ali, Alshehri, Mohammad, Al-Muhaizea, Abdulaziz, Al-Saman
Publikováno v:
Neurosciences
Autor:
Fahad A. Bashiri, Khalid Hundullah, Ali Alshehri, Ahmed K Bamaga, Nahla Alshaikh, Abdulaziz Al-Saman, Fouad Al-Ghamdi, Mohammad A. Al-Muhaizea
Publikováno v:
Neurosciences
Coronavirus disease 2019 (COVID-19) is caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV2). The World Health Organization declared COVID-19 to be a global health emergency on January 30, 2020, and its rapid spread was decl
Autor:
Ahmad Alshaer, Ayman W. El-Hattab, Hesham Aldhalaan, Firdous Abdulwahab, Mustafa A. Salih, Shams Anazi, Mais Hashem, Adila Al Kindy, Mohammed M. Saleh, Henry Houlden, Jehan Suleiman, Hanan E. Shamseldin, Selina Banu, Nadia Al-Hashmi, Nisha Patel, Ali Alasmari, Niema Ibrahim, Yasmine T. Asi, Hisham Alkuraya, Nada Al Tassan, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Dorota Monies, Mohamed Abouelhoda, Abdulaziz Al-Saman, Eissa Faqeih, Amal Alhashem, Fatema Alzahrani, Vincenzo Salpietro, Stefan T. Arold, Brahim Tabarki, Tipu Sultan, Wesam Kurdi, Fathiya Al Murshedi, Sateesh Maddirevula, Majid Alfadhel, Saud Alsahli, Caleb Bupp, Ahmed Al Rumayyan, Fatima Al Musafri, Rehab Ali, Saeed Al Tala, Tammaryn Lashley
Publikováno v:
Human genetics. 137(1)
Variant nomenclature discrepancy was identified in the article.
Autor:
Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil
Publikováno v:
Human Genetics
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the pe
Autor:
Hisham Alkuraya, Ahmad Alshaer, Henry Houlden, Eissa Faqeih, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Fatima Al Musafri, Tammaryn Lashley, Fathiya Al Murshedi, Majid Alfadhel, Abdulaziz Al-Saman, Sateesh Maddirevula, Mohamed Abouelhoda, Mais Hashem, Saud Alsahli, Fatema Alzahrani, Hanan E. Shamseldin, Nisha Patel, Ayman W. El-Hattab, Selina Banu, Nadia Al-Hashmi, Firdous Abdulwahab, Stefan T. Arold, Hesham Aldhalaan, Shams Anazi, Amal Alhashem, Rehab Ali, Jehan Suleiman, Mustafa A. Salih, Brahim Tabarki, Adila Al Kindy, Nada Al Tassan, Dorota Monies, Mohammed M. Saleh, Saeed Al Tala, Yasmine T. Asi, Ali Alasmari, Vincenzo Salpietro, Wesam Kurdi, Tipu Sultan, Niema Ibrahim, Caleb Bupp, Ahmed Al Rumayyan
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30da2c6990047299de2fe87654357e01
http://hdl.handle.net/11567/981530
http://hdl.handle.net/11567/981530
Autor:
Abdulaziz Al-Saman, Nahla Alshaikh
Publikováno v:
Pediatric Neurology. 48:363-366
Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great variability in their presentation. We report a series of eight patients with type III spinal muscular atrophy who were followed for a long time for possible mu
Autor:
Salma M. Wakil, Fatma Alzahrani, Fahad A. Bashiri, M Al Shammari, W Alamoudi, Stefan T. Arold, Mustafa A. Salih, P El.Fishway, Ranad Shaheen, Abdulaziz Al-Saman, A Ercan Sencicek, Niema Ibrahim, M. Hashem, N Abd El.Meguid, Wafaa Eyaid, Majid Alfadhel, Hessa S. Alsaif, Rehab Ali, Ali H Alwadei, Nada Al-Tassan, Anas M. Alazami, Nour Ewida, Dorota Monies, Amal Y. Kentab, Mohamed Abouelhoda, Matthew W. State, Haifa Alsedairy, Adel A.H. Mahmoud, Zuhair N. Al-Hassnan, A Al Asmari, M Alsughayir, R Osama Khalil, M Alnaser, Amira Masri, Khalid A. Alhasan, Adel F. Hashish, Mohammed M. Saleh, Amal M. Hashem, Hanan E. Shamseldin, Nisha Patel, Eissa Faqeih, Sateesh Maddirevula, Shamsa Anazi, Firdous Abdulwahab, Muneera Al-Husain, Fowzan S. Alkuraya, Tawfeg Ben-Omran, H Al sharif
Publikováno v:
Molecular psychiatry. 22(4)
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in