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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: alfadhel m. Front Genet. 2022 Aug 11;13:886038. doi: 10.3389/fgene.2022.886038. eCollection 2022. Front Genet. 2022. PMID: 36035137 Free PMC article.
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Alfadhel M, et al. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 Free PMC article.
Clinical Genetics of Polydactyly: An Updated Review.
Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Umair M, et al. Among authors: alfadhel m. Front Genet. 2018 Nov 6;9:447. doi: 10.3389/fgene.2018.00447. eCollection 2018. Front Genet. 2018. PMID: 30459804 Free PMC article.
Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation.
Barhoumi T, Nashabat M, Alghanem B, Alhallaj A, Boudjelal M, Umair M, Alarifi S, Alfares A, Mohrij SAA, Alfadhel M. Barhoumi T, et al. Among authors: alfadhel m. Front Genet. 2019 Jun 5;10:534. doi: 10.3389/fgene.2019.00534. eCollection 2019. Front Genet. 2019. PMID: 31275352 Free PMC article.
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. 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.
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: alfadhel m. 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
240 results