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Year Number of Results
2004 2
2005 4
2006 5
2007 10
2008 8
2009 4
2010 3
2011 3
2012 6
2013 7
2014 4
2015 2
2016 4
2017 3
2018 3
2019 4
2020 7
2021 1
2022 7
2023 12
2024 12
2025 3

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101 results

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Page 1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Among authors: al futaisi a. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. Among authors: al futaisi a. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A. Ramakrishna NB, et al. Among authors: al futaisi a. Am J Hum Genet. 2025 May 1;112(5):1233-1246. doi: 10.1016/j.ajhg.2025.03.013. Epub 2025 Apr 10. Am J Hum Genet. 2025. PMID: 40215970 Free PMC article.
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Al Hashem AM, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. Rawlins LE, et al. Among authors: al futaisi a. Genet Med. 2025 Feb;27(2):101278. doi: 10.1016/j.gim.2024.101278. Epub 2024 Sep 21. Genet Med. 2025. PMID: 39315527 Free article.
Diabesity in the Arabian Gulf: Challenges and Opportunities.
Khalil AB, Beshyah SA, Abdella N, Afandi B, Al-Arouj MM, Al-Awadi F, Benbarka M, Ben Nakhi A, Fiad TM, Al Futaisi A, Hassoun AA, Hussein W, Kaddaha G, Ksseiry I, Al Lamki M, Madani AA, Saber FA, Abdel Aal Z, Morcos B, Saadi H. Khalil AB, et al. Among authors: al futaisi a. Oman Med J. 2018 Jul;33(4):273-282. doi: 10.5001/omj.2018.53. Oman Med J. 2018. PMID: 30038726 Free PMC article. Review. No abstract available.
Absent Septum Pellucidum: Search for other anomalies.
Saleh K, Al-Ajmi E, Al Futaisi A. Saleh K, et al. Among authors: al futaisi a. Sultan Qaboos Univ Med J. 2023 Aug;23(3):423-424. doi: 10.18295/squmj.5.2023.024. Epub 2023 Aug 28. Sultan Qaboos Univ Med J. 2023. PMID: 37655086 Free PMC article. No abstract available.
Telemedicine in the Era of COVID-19 and Beyond: A new horizon.
Alsaffar H, Almamari W, Al Futaisi A. Alsaffar H, et al. Among authors: al futaisi a. Sultan Qaboos Univ Med J. 2020 Nov;20(4):e277-e279. doi: 10.18295/squmj.2020.20.04.001. Epub 2020 Dec 21. Sultan Qaboos Univ Med J. 2020. PMID: 33414930 Free PMC article. No abstract available.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Among authors: al futaisi am. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
101 results