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Page 1
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.
Devadoss Gandhi G, Aliyev E, Syed N, Vempalli FR, Saad C, Mbarek H, Al-Saei O, Al-Maraghi A, Abdi M, Krishnamoorthy N, Badii R; Qatar Genome Program Research Consortium; Akil AA, Ben-Omran T, Fakhro KA. Devadoss Gandhi G, et al. Among authors: krishnamoorthy n. Genet Med. 2024 Dec;26(12):101268. doi: 10.1016/j.gim.2024.101268. Epub 2024 Sep 14. Genet Med. 2024. PMID: 39286960 Free article.
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA. Aamer W, et al. Among authors: krishnamoorthy n. Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6. Genome Med. 2024. PMID: 38584274 Free PMC article.
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M; Qatar Genome Program Research Consortium (QGPRC); Mifsud B, Mokrab Y, Abi Khalil C, Fakhro KA. Gandhi GD, et al. Among authors: krishnamoorthy n. J Transl Med. 2022 Nov 3;20(1):502. doi: 10.1186/s12967-022-03697-w. J Transl Med. 2022. PMID: 36329474 Free PMC article.
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.
Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X. Alkowari M, et al. Among authors: krishnamoorthy n. Int J Mol Sci. 2022 Mar 21;23(6):3369. doi: 10.3390/ijms23063369. Int J Mol Sci. 2022. PMID: 35328790 Free PMC article.
106 results