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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
Towards establishing consistency in triage in a tertiary specialty.
McVeigh TP, Donnelly D, Al Shehhi M, Jones EA, Murray A, Wedderburn S, Porteous M, Lynch SA. McVeigh TP, et al. Eur J Hum Genet. 2019 Apr;27(4):547-555. doi: 10.1038/s41431-018-0322-0. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622329 Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: al shehhi m. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, Al Kindy A, Al Riyami N, Al Dughaishi T, Al Salmani M, Al Hashmi N, Al Shehhi M, Al Fahdi B, Al Amri S, Al-Thihli K. Bruwer Z, et al. Among authors: al shehhi m. J Community Genet. 2022 Jun;13(3):303-311. doi: 10.1007/s12687-022-00584-1. Epub 2022 Feb 18. J Community Genet. 2022. PMID: 35179721 Free PMC article.
Epidemiology and Outcome of CKD in Omani Children.
Al Riyami MS, Al Shehhi M, Al Sulaimi T, Al Mamary L, Al Maskari A, Al Ghaithi B, Al Riyami M, Al Kalbani N, Al Saidi S. Al Riyami MS, et al. Kidney Int Rep. 2019 Feb 27;4(5):727-732. doi: 10.1016/j.ekir.2019.02.014. eCollection 2019 May. Kidney Int Rep. 2019. PMID: 31080929 Free PMC article. No abstract available.
23 results