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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Among authors: almuzzaini b. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri A, Alwadaani D, Umair M, Alhamoudi KM, Almuhanna MH, Nasir A, Alrfaei BM, Al Tuwaijri A, Barhoumi T, Alyafee Y, Almuzzaini B, Aldrees M, Ballow M, Alayyar L, Al Abdulrahman A, Alhaidan Y, Al Ghasham N, Al-Ajaji S, Alsalamah M, Al Suwairi W, Alfadhel M. Asiri A, et al. Among authors: almuzzaini b. Genes (Basel). 2021 Feb 20;12(2):294. doi: 10.3390/genes12020294. Genes (Basel). 2021. PMID: 33672558 Free PMC article.
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: almuzzaini b. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570
Blockade of p38 MAPK overcomes AML stem cell line KG1a resistance to 5-Fluorouridine and the impact on miRNA profiling.
Matou-Nasri S, Najdi M, AlSaud NA, Alhaidan Y, Al-Eidi H, Alatar G, AlWadaani D, Trivilegio T, AlSubait A, AlTuwaijri A, Abudawood M, Almuzzaini B. Matou-Nasri S, et al. Among authors: almuzzaini b. PLoS One. 2022 May 5;17(5):e0267855. doi: 10.1371/journal.pone.0267855. eCollection 2022. PLoS One. 2022. PMID: 35511922 Free PMC article.
Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes.
Alaamery M, Alghamdi J, Massadeh S, Alsawaji M, Aljawini N, Albesher N, Alghamdi B, Almutairi M, Hejaili F, Alfadhel M, Baz B, Almuzzaini B, Almutairi AF, Abdullah M, Quintana FJ, Sayyari A. Alaamery M, et al. Among authors: almuzzaini b. Front Genet. 2022 Aug 11;13:886038. doi: 10.3389/fgene.2022.886038. eCollection 2022. Front Genet. 2022. PMID: 36035137 Free PMC article.
β-Actin-dependent global chromatin organization and gene expression programs control cellular identity.
Xie X, Almuzzaini B, Drou N, Kremb S, Yousif A, Farrants AÖ, Gunsalus K, Percipalle P. Xie X, et al. Among authors: almuzzaini b. FASEB J. 2018 Mar;32(3):1296-1314. doi: 10.1096/fj.201700753R. Epub 2018 Jan 3. FASEB J. 2018. PMID: 29101221
Our results suggest that, by affecting the genome-wide organization of heterochromatin through the chromatin-binding activity of the BAF complex, beta-actin plays an essential role in the determination of gene expression programs and cellular identity.-Xie, X., Almuzzaini, …
Our results suggest that, by affecting the genome-wide organization of heterochromatin through the chromatin-binding activity of the BAF com …
28 results