Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Khoula Al Shidhani"'
Autor:
Sumaya Al Oraimi, Khoula Al Shidhani, Hasina Al Harthi, Suaad Al Sinani, Nasser Al Busaidi, Muna Al Bimani, Qasem Al Salmi, Hussein Al Kindi
Publikováno v:
Oman Medical Journal, Vol 37, Iss 6, Pp e444-e444 (2022)
Objectives: To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: W
Externí odkaz:
https://doaj.org/article/caf6c221582e4acd8551f55e58864cad
Autor:
Hussain Mohsin, Younis Al Balushi, Sumaya Al Oraimi, Khoula Al Shidhani, Qasim AlSalmi, Zainab Al Musawi
Publikováno v:
International Journal of Pediatrics and Adolescent Medicine. 9:104-107
Cystic fibrosis (CF) is a multisystemic chronic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. These mutations are classified in to six classes. Ivacaftor is a CFTR potentiator which partially r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4715ad560fc3fd2bfc4eddd2a6dfb2d6
https://doi.org/10.1016/j.ijpam.2021.10.003
https://doi.org/10.1016/j.ijpam.2021.10.003
Autor:
Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
Publikováno v:
Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
PurposeWe sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.MethodsExome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c4a0faa290a3077e80ae69e0f23f9e
https://doi.org/10.1136/jmedgenet-2021-108150
https://doi.org/10.1136/jmedgenet-2021-108150