Clinical genetics and genomic medicine in Qatar

por Al‐Dewik, Nader, Al‐Mureikhi, Mariam, Shahbeck, Noora, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Othman, Amna, AlMulla, Mariam, Sulaiman, Reem Al, Musa, Sara, Abdoh, Ghassan, El‐Akouri, Karen, Solomon, Benjamin D., Ben‐Omran, Tawfeg
Publicado 2018

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

por Al‐Dewik, Nader, Mohd, Howaida, Al‐Mureikhi, Mariam, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, El‐Akouri, Karen, Almulla, Mariam, Al Sulaiman, Reem, Musa, Sara, Al‐Marri, Ajayeb Al‐Nabet, Richard, Gabriele, Juusola, Jane, Solomon, Benjamin D., Alkuraya, Fowzan S., Ben‐Omran, Tawfeg
Publicado 2019

Gene therapy for spinal muscular atrophy: the Qatari experience

por Ali, Hossamaldein Gaber, Ibrahim, Khalid, Elsaid, Mahmoud Fawzi, Mohamed, Reem Babiker, Abeidah, Mahmoud I. A., Al Rawwas, Azhar Othman, Elshafey, Khaled, Almulla, Hajer, El-Akouri, Karen, Almulla, Mariam, Othman, Amna, Musa, Sara, Al-Mesaifri, Fatma, Ali, Rehab, Shahbeck, Noora, Al-Mureikhi, Mariam, Alsulaiman, Reem, Alkaabi, Saad, Ben-Omran, Tawfeg
Publicado 2021

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

por Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Publicado 2022