Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Karen El-Akouri"'
Autor:
Shaza Alkhidir, Karen El-Akouri, Nader Al-Dewik, Houssein Khodjet-El-khil, Sarah Okashah, Nazmul Islam, Tawfeg Ben-Omran, Mashael Al-Shafai
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the prevalence of hear
Externí odkaz:
https://doaj.org/article/a5b78ae7fd3746b39dd5edc2d75c9ff8
Autor:
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg
Publikováno v:
AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
https://lirias.kuleuven.be/handle/20.500.12942/704570
https://lirias.kuleuven.be/handle/20.500.12942/704570
Autor:
Rehab, Ali, Nader, Al-Dewik, Shayma, Mohammed, Mahmud, Elfituri, Sahar, Agouba, Sara, Musa, Laila, Mahmoud, Mariam, Almulla, Karen, El-Akouri, Howaida, Mohd, Reem, Bux, Hajer, Almulla, Amna, Othman, Fatma, Al-Mesaifri, Noora, Shahbeck, Mariam, Al-Muriekhi, Amal, Khalifa, Reem, Al-Sulaiman, Tawfeg, Ben-Omran
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(1)
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking pheno
Autor:
Howaida Mohd, Karen El-Akouri, Reem Al Sulaiman, Nader Al-Dewik, Benjamin D. Solomon, Mariam Al-Mulla, Sara Musa, Mariam Almureikhi, Noora Shahbeck, Laila Mahmoud, Ajayeb Al-Nabet Al-Marri, Jane Juusola, Rehab Ali, Gabriele Richard, Fatma Al-Mesaifri, Fowzan S. Alkuraya, Tawfeg Ben-Omran
Publikováno v:
American Journal of Medical Genetics. Part a
Background Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are heterogeneous in etiology and clinical presentation. Reporting large CES series can i
Autor:
Hossamaldein Gaber, Ali, Khalid, Ibrahim, Mahmoud Fawzi, Elsaid, Reem Babiker, Mohamed, Mahmoud I A, Abeidah, Azhar Othman, Al Rawwas, Khaled, Elshafey, Hajer, Almulla, Karen, El-Akouri, Mariam, Almulla, Amna, Othman, Sara, Musa, Fatma, Al-Mesaifri, Rehab, Ali, Noora, Shahbeck, Mariam, Al-Mureikhi, Reem, Alsulaiman, Saad, Alkaabi, Tawfeg, Ben-Omran
Publikováno v:
Gene Therapy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for
Autor:
Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem
Publikováno v:
Genetics in Medicine. 20:420-427
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a
Autor:
Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Reem Al Saadi, Henk J. Blom, Laila Mahmoud, Karen El-Akouri, Mariam Al-Mulla, Gheyath K. Nasrallah, Beat Thöny, Warren D. Kruger, Sara Musa, Fatma Al-Mesaifri, Alaa Ali, Rehab Ali, Yassmin Mahmoud, Johannes Häberle, Mariam Almureikhi, Nader Al-Dewik, Muthanna Samara, Hilal Al Rifai
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 42(5)
Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural history and clinical manifestat
Autor:
Mariam Almureikhi, Amna Othman, Ghassan Abdoh, Benjamin D. Solomon, Rehab Ali, Fatma Al-Mesaifri, Mariam Al-Mulla, Sara Musa, Noora Shahbeck, Tawfeg Ben-Omran, Karen El-Akouri, Reem Al Sulaiman, Nader Al-Dewik, Laila Mahmoud
Publikováno v:
Molecular Genetics & Genomic Medicine
Clinical genetics and genomic medicine in Qatar.