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Page 1
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA. Al Senani A, et al. Among authors: al sukaiti n, al badi m, al yahyai m, al kharusi m, al azkawi h. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. doi: 10.1515/jpem-2017-0284. J Pediatr Endocrinol Metab. 2018. PMID: 29329106 Free PMC article.
Chronic Q Fever Endocarditis in an Omani Child: The First Pediatric Case Report from Oman.
Al-Araimi HA, Al-Alawi K, Al-Jardani AK, Paul G, Al-Sukaiti N, Al-Farqani A, Al-Maani AS. Al-Araimi HA, et al. Among authors: al alawi k, al sukaiti n, al jardani ak, al farqani a, al maani as. Oman Med J. 2020 Sep 30;35(5):e180. doi: 10.5001/omj.2020.121. eCollection 2020 Sep. Oman Med J. 2020. PMID: 33083038 Free PMC article.
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.
Hermansky-Pudlak Syndrome: Spectrum in Oman.
Nazir HF, Al Sukaiti N, Khater D, Elbeshlawy I, Hassanein N. Nazir HF, et al. Among authors: al sukaiti n. J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e389-e394. doi: 10.1097/MPH.0000000000002552. Epub 2022 Sep 21. J Pediatr Hematol Oncol. 2023. PMID: 36162005
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A. Mohammed M, et al. Among authors: al sukaiti n, al adawi k, al maawali a, al riyami m, al rashdi s, al hashmi n. Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472485
23 results