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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: ali h. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H, Naim M, Senum SR, AlSahow A, Bahbahani Y, Abu-Farha M, Abubaker J, Mohammad A, Al-Hunayan A, Asbeutah AM, Zayed M, Devarajan S, Hussain N, John SE, Channanath A, Thanaraj TA, Al-Ali M, AlMousawi M, Al-Mulla F, Harris PC. Ali H, et al. Clin Kidney J. 2022 Oct 28;16(2):355-366. doi: 10.1093/ckj/sfac236. eCollection 2023 Feb. Clin Kidney J. 2022. PMID: 36755831 Free PMC article.
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A. Jalkh N, et al. Among authors: ali h. BMC Med Genomics. 2017 Feb 15;10(1):8. doi: 10.1186/s12920-017-0244-7. BMC Med Genomics. 2017. PMID: 28202063 Free PMC article.
Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.
Nizam R, Al-Ozairi E, Goodson JM, Melhem M, Davidsson L, Alkhandari H, Al Madhoun A, Shamsah S, Qaddoumi M, Alghanim G, Alhasawi N, Abu-Farha M, Abubaker J, Shi P, Hartman ML, Tavares M, Bitar M, Ali H, Arefanian H, Devarajan S, Al-Refaei F, Alsmadi O, Tuomilehto J, Al-Mulla F. Nizam R, et al. Among authors: ali h. Front Genet. 2018 Dec 21;9:689. doi: 10.3389/fgene.2018.00689. eCollection 2018. Front Genet. 2018. PMID: 30622557 Free PMC article.
Corrigendum: Caveolin-1 Variant Is Associated With the Metabolic Syndrome in Kuwaiti Children.
Nizam R, Al-Ozairi E, Goodson JM, Melhem M, Davidsson L, Alkhandari H, Al Madhoun A, Shamsah S, Qaddoumi M, Alghanim G, Alhasawi N, Abu-Farha M, Abubaker J, Shi P, Hartman ML, Tavares M, Bitar M, Ali H, Arefanian H, Devarajan S, Al-Refaei F, Alsmadi O, Tuomilehto J, Al-Mulla F. Nizam R, et al. Among authors: ali h. Front Genet. 2019 Mar 20;10:221. doi: 10.3389/fgene.2019.00221. eCollection 2019. Front Genet. 2019. PMID: 30949197 Free PMC article.
3,771 results