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Year Number of Results
2007 1
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2015 1
2016 1
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2019 4
2020 6
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2022 4
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22 results

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Page 1
Crisponi/CISS1 syndrome: A case series.
Alhashem AM, Majeed-Saidan MA, Ammari AN, Alrakaf MS, Nojoom M, Maddirevula S, Faqeih E, Alkuraya FS, Garne E, Kurdi AM. Alhashem AM, et al. Am J Med Genet A. 2016 May;170A(5):1236-41. doi: 10.1002/ajmg.a.37569. Epub 2016 Jan 24. Am J Med Genet A. 2016. PMID: 26804344
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: alhashem am. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Among authors: alhashem am. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
Neuroregression, coarse features, and oligosaccharides in urines.
BoAli AY, Tlili-Graiess K, AlHashem AM, Tabarki BM. BoAli AY, et al. Among authors: alhashem am. Neurosciences (Riyadh). 2017 Oct;22(4):325-327. doi: 10.17712/nsj.2017.4.20170193. Neurosciences (Riyadh). 2017. PMID: 29057862 Free PMC article. No abstract available.
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernández-Jaén A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G. Drissi I, et al. Among authors: alhashem am. J Med Genet. 2022 Apr;59(4):358-365. doi: 10.1136/jmedgenet-2020-107237. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820834 Free PMC article.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. Ghosh SG, et al. Among authors: alhashem am. J Med Genet. 2020 Apr;57(4):274-282. doi: 10.1136/jmedgenet-2019-106409. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586943 Free PMC article.
22 results