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13 results

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Page 1
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: al qattan s. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.
Al-Mutairy EA, Al Qattan S, Khalid M, Al-Enazi AA, Al-Saif MM, Imtiaz F, Ramzan K, Raveendran V, Alaiya A, Meyer BF, Atamas SP, Collison KS, Khabar KS, Hasday JD, Al-Mohanna F. Al-Mutairy EA, et al. Among authors: al qattan s. Front Cell Dev Biol. 2023 Nov 30;11:1282868. doi: 10.3389/fcell.2023.1282868. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 38099297 Free PMC article.
Toward allogenizing a xenograft: Xenogeneic cardiac scaffolds recellularized with human-induced pluripotent stem cells do not activate human naïve neutrophils.
Al-Hejailan RS, Bakheet RH, Al-Saud MM, Al-Jufan MB, Al-Hindas HM, Al-Qattan SM, Al-Muhanna MK, Parhar RS, Conca W, Hansmann J, Collison KS, Walles H, Al-Mohanna FA. Al-Hejailan RS, et al. Among authors: al qattan sm. J Biomed Mater Res B Appl Biomater. 2022 Mar;110(3):691-701. doi: 10.1002/jbm.b.34948. Epub 2021 Oct 7. J Biomed Mater Res B Appl Biomater. 2022. PMID: 34619017
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Among authors: al qattan sm. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS. Shaheen R, et al. Among authors: al qattan sm. Am J Hum Genet. 2014 Jun 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15. Am J Hum Genet. 2014. PMID: 24836451 Free PMC article.
13 results