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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Risk Adjusting Health Care Provider Collaboration Networks.
Chandler AE, Mutharasan RK, Amelia L, Carson MB, Scholtens DM, Soulakis ND. Chandler AE, et al. Among authors: amelia l. Methods Inf Med. 2019 Sep;58(2-03):71-78. doi: 10.1055/s-0039-1694990. Epub 2019 Sep 12. Methods Inf Med. 2019. PMID: 31514208
Effect of Thermal Stress on Tissue Ultrastructure and Metabolite Profiles During Initiation of Radiata Pine Somatic Embryogenesis.
Castander-Olarieta A, Montalbán IA, De Medeiros Oliveira E, Dell'Aversana E, D'Amelia L, Carillo P, Steiner N, Fraga HPF, Guerra MP, Goicoa T, Ugarte MD, Pereira C, Moncaleán P. Castander-Olarieta A, et al. Among authors: d amelia l. Front Plant Sci. 2019 Jan 17;9:2004. doi: 10.3389/fpls.2018.02004. eCollection 2018. Front Plant Sci. 2019. PMID: 30705684 Free PMC article.