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2021 2
2022 3
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Page 1
Teaching NeuroImages: CLOVES Syndrome.
Collins M, Krochmalnek E, Alsubhi S, Srour M. Collins M, et al. Among authors: alsubhi s. Neurology. 2021 Mar 9;96(10):e1487-e1488. doi: 10.1212/WNL.0000000000010856. Epub 2020 Dec 1. Neurology. 2021. PMID: 33262231 Free PMC article. No abstract available.
Further Delineation of the ALG9-CDG Phenotype.
AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. AlSubhi S, et al. JIMD Rep. 2016;27:107-12. doi: 10.1007/8904_2015_504. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453364 Free PMC article.
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. Alsubhi S, et al. Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742265
Sepiapterin reductase deficiency: Report of 5 new cases.
AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B. AlSubhi S, et al. Eur J Paediatr Neurol. 2017 May;21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. Eur J Paediatr Neurol. 2017. PMID: 28189489
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: alsubhi s. Genet Med. 2022 Oct 31:S1098-3600(22)00948-0. doi: 10.1016/j.gim.2022.09.010. Online ahead of print. Genet Med. 2022. PMID: 36318270
Missense mutations in PIEZO1, encoding the Piezo1 mechanosensor protein, define the Er red blood cell antigens.
Karamatic Crew V, Tilley LA, Satchwell TJ, AlSubhi SA, Jones B, Spring FA, Walser PJ, Martins Freire C, Murciano N, Rotordam MG, Woestmann SJ, Hamed M, Alradwan R, AlKhrousey M, Skidmore I, Lewis S, Hussain S, Jackson J, Latham T, Kilby MD, Lester WA, Becker N, Rapedius M, Toye AM, Thornton NM. Karamatic Crew V, et al. Among authors: alsubhi sa. Blood. 2022 Sep 19:blood.2022016504. doi: 10.1182/blood.2022016504. Online ahead of print. Blood. 2022. PMID: 36122374