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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: danish e. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Danish E, Alhashem A, Aljehani R, Aljawi A, Aldarwish MM, Al Mutairi F, Alfadhel M, Alrifai MT, Alobaisi S. Danish E, et al. Saudi J Ophthalmol. 2023 Sep 16;37(4):301-306. doi: 10.4103/sjopt.sjopt_108_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155673 Free PMC article.
An Eco-Friendly, Interference, and Solvent Free Surfactant-Assisted Dual-Wavelength β-CorrectionSpectrometric Method for Total Determination and Speciation of Cu2+ Ions in Water.
Alwael H, Al-Raimi DS, Al-Ahmary KM, Nasef HA, Alharthi AS, Abduljabbar TN, Mujawar LH, Danish EY, Soomro MT, El-Shahawi MS. Alwael H, et al. Among authors: danish ey. Int J Anal Chem. 2023 Nov 4;2023:5001869. doi: 10.1155/2023/5001869. eCollection 2023. Int J Anal Chem. 2023. PMID: 37954135 Free PMC article.
54 results