Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Yousef, Housawi"'
Autor:
Ali Mir, Montaha AlMudhry, Wajd AlOtaibi, Rami AlHazmi, Raidah AlBaradie, Qasim AlHarbi, Shahid Bashir, Omar Chamdine, Yousef Housawi
Publikováno v:
Journal of Pediatric Hematology/Oncology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::539b34475213b982209c846d50da1231
https://doi.org/10.1097/mph.0000000000002641
https://doi.org/10.1097/mph.0000000000002641
Autor:
Ali, Mir, Fawzia, Amer, Mona, Ali, Wajd, Alotaibi, Manar, Alotaibi, Abdullah, Hedaithy, Fatimah, Aldurayhim, Fatimah, Hussain, Shahid, Bashir, Yousef, Housawi
Publikováno v:
Clinical EEG and neuroscience.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d1c2d4112122a8c21f0d2d109ad7fd05
https://pubmed.ncbi.nlm.nih.gov/35815844
https://pubmed.ncbi.nlm.nih.gov/35815844
Autor:
Yousef Housawi, Salma Abdelhay, Fatimah Aldurayhim, Mona Ibrahim, Fouad Al-Ghamdi, Ali Mir, Raidah Albaradie, Maryam Bawazir, Mushari Alamr, Montaha Almudhry, Abdullah Alhedaithy, Shahid Bashir, Sahar Mohammad
Publikováno v:
Human genetics. 141(1)
The uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5′-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249e06969ad40c727e01eff6796ff638
https://pubmed.ncbi.nlm.nih.gov/34797406
https://pubmed.ncbi.nlm.nih.gov/34797406
Autor:
Ali Mir, Fawzia Amer, Mona Ali, Wajd Alotaibi, Manar Alotaibi, Abdullah Hedaithy, Fatimah Aldurayhim, Fatimah Hussain, Shahid Bashir, Yousef Housawi
Publikováno v:
Clinical EEG and Neuroscience. :155005942211125
Background. Biallelic pathogenic variants in the FRRS1L gene are now known to cause developmental and epileptic encephalopathy-37 (DEE37). It can also be associated with chorea and continuous spikes and waves during sleep (CSWS). CSWS is a rare age-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3575e8ac4d1da14b9321262d0387e8a0
https://doi.org/10.1177/15500594221112508
https://doi.org/10.1177/15500594221112508
Autor:
Patrick M. A. Sleiman, Michael E. March, Mohamed Sager, Cuiping Hou, Lifeng Tian, Renata Pellegrino, Kenny Nguyen, Hakon Hakonarson, Yousef Housawi, Walid Dridi
Publikováno v:
Human Mutation. 38:507-510
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abd60090452f986c530cca0802f638d
https://doi.org/10.1002/humu.23188
https://doi.org/10.1002/humu.23188
Publikováno v:
Clinical Genetics. 98:102-103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a81d3efa57f867c4f08c19e293137490
https://doi.org/10.1111/cge.13763
https://doi.org/10.1111/cge.13763
Publikováno v:
Braindevelopment. 41(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941005071ed6ce961eb1f37dc0306e3f
https://pubmed.ncbi.nlm.nih.gov/30952461
https://pubmed.ncbi.nlm.nih.gov/30952461
Publikováno v:
Braindevelopment. 41(8)
EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb5685ce3f942a2e5fc81cb2c70e922
https://pubmed.ncbi.nlm.nih.gov/31331637
https://pubmed.ncbi.nlm.nih.gov/31331637
Autor:
Khalid Alsaleh, Yousef Housawi, Miral Mashhour, Afnan Almousa, Masood Alqahtani, Waleed Abozeed, Abdulmalik Alsheikh, Caitlin Edwards, Natasha Buzzacott, Shareefa Al Hawwaj, Karen Carpenter, Barry Iacopetta
Publikováno v:
Familial cancer. 17(2)
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6624cc385870075d53fe09b2a03cb7ba
https://pubmed.ncbi.nlm.nih.gov/28643016
https://pubmed.ncbi.nlm.nih.gov/28643016