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Page 1
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: al sukaiti n, al kindi m, al habsi h, al shekaili j, al farsi t, al hashmi n, al macki n. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Füllekrug J, Al-Maawali A. Al-Thihli K, et al. Among authors: al said k, al maawali a, al kharusi k, al shibli n, al hashmi n, al kasbi g. Clin Genet. 2021 Mar;99(3):376-383. doi: 10.1111/cge.13883. Epub 2020 Nov 25. Clin Genet. 2021. PMID: 33191500
Further phenotypic delineation of Alazami syndrome.
Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, Al-Murshedi F, Al-Thihli K, Al-Kindi A, Al-Maawali A. Al-Hinai A, et al. Among authors: al mamari w, al hashmi s, al murshedi f, al maawali a, al thihli k, al hashmi n, al kindi a, al saegh a. Am J Med Genet A. 2022 Aug;188(8):2485-2490. doi: 10.1002/ajmg.a.62778. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567578
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.
Al Balushi A, Al Hinai M, Al Hosni A, Al Amrani F, Al Maimani A, Al Maki N, Al Hashmi N. Al Balushi A, et al. Among authors: al hosni a, al hinai m, al maimani a, al maki n, al amrani f, al hashmi n. J Pediatr Genet. 2023 Feb 24;13(3):175-180. doi: 10.1055/s-0043-1764127. eCollection 2024 Sep. J Pediatr Genet. 2023. PMID: 39086452 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 murshedi f, al amri s, al maawali a, al dughaishi t, al kharusi k, al thihli k, al kindy a, al salmani m, al riyami n, al ubaidani s, al hashmi n, al fahdi b, al sayegh a, 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.
45 results