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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: mena r. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: mena r. Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. Hum Mol Genet. 2019. PMID: 31127942 Free PMC article.
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.
Simpson BN, Mejía Sang ME, Collado Puello Y, Diaz Brockmans EJ, Díaz Soto MF, Rivera Defilló SM, Taveras Cruz KM, Santiago Pérez JO, Husami A, Day ME, Pilipenko V, Mena R, Mota C, Hostetter MK, Muglia LJ, Schlaudecker E, Gonzalez Del Rey J, Martin LJ, Prada CE. Simpson BN, et al. Among authors: mena r. J Pediatric Infect Dis Soc. 2023 Apr 18;12(3):169-172. doi: 10.1093/jpids/piac136. J Pediatric Infect Dis Soc. 2023. PMID: 36537278
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: mena r. Hum Mol Genet. 2020 Mar 27;29(5):877-878. doi: 10.1093/hmg/ddz173. Hum Mol Genet. 2020. PMID: 32027362 Free PMC article. No abstract available.
Prenatal Diagnosis of Fetal Lymphangioma: A Case Series.
Diaz-Primera R, Sánchez-Jimenez R, Marin-Concha J, Mena R, Garrido-Mendez J, Mariñez M, Mena-Rivas R, Lopez A, Diaz-Rodriguez A, Mogena-Sanchez O, Almanzar R, Soto-Ravelo R. Diaz-Primera R, et al. Among authors: mena rivas r, mena r. J Ultrasound Med. 2022 Apr;41(4):1019-1026. doi: 10.1002/jum.15783. Epub 2021 Jul 20. J Ultrasound Med. 2022. PMID: 34288011
Building capacity to reduce stroke in children with sickle cell anemia in the Dominican Republic: the SACRED trial.
Sánchez LM, Nieves RM, Latham T, Stuber S, Luden JR, Urcuyo GS, Berges ME, Florencio C, Gonzalez C, Del Villar P, Lane A, Schultz W, Jeste N, Mena R, Ware RE. Sánchez LM, et al. Among authors: mena r. Blood Adv. 2018 Nov 30;2(Suppl 1):50-53. doi: 10.1182/bloodadvances.2018GS110818. Blood Adv. 2018. PMID: 30504201 Free PMC article. Clinical Trial. No abstract available.
145 results