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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. 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. Among authors: alaamery m. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 Free PMC article.
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Massadeh S, Alhashem A, van de Laar IMBH, Alhabshan F, Ordonez N, Alawbathani S, Khan S, Kabbani MS, Chaikhouni F, Sheereen A, Almohammed I, Alghamdi B, Frohn-Mulder I, Ahmad S, Beetz C, Bauer P, Wessels MW, Alaamery M, Bertoli-Avella AM. Massadeh S, et al. Among authors: alaamery m. Clin Genet. 2020 Jul;98(1):56-63. doi: 10.1111/cge.13760. Epub 2020 May 19. Clin Genet. 2020. PMID: 32323311
Role of sphingolipid metabolism in neurodegeneration.
Alaamery M, Albesher N, Aljawini N, Alsuwailm M, Massadeh S, Wheeler MA, Chao CC, Quintana FJ. Alaamery M, et al. J Neurochem. 2021 Jul;158(1):25-35. doi: 10.1111/jnc.15044. Epub 2020 Jul 3. J Neurochem. 2021. PMID: 32402091 Free PMC article. Review.
42 results