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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. Walls WD, et al. Among authors: marini rj. Hum Genet. 2020 Oct;139(10):1315-1323. doi: 10.1007/s00439-020-02174-y. Epub 2020 May 7. Hum Genet. 2020. PMID: 32382995 Free PMC article.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 Free PMC article.
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking.
Tollefson MR, Litman JM, Qi G, O'Connell CE, Wipfler MJ, Marini RJ, Bernabe HV, Tollefson WTA, Braun TA, Casavant TL, Smith RJH, Schnieders MJ. Tollefson MR, et al. Among authors: marini rj. Biophys J. 2019 Aug 6;117(3):602-612. doi: 10.1016/j.bpj.2019.06.030. Epub 2019 Jul 3. Biophys J. 2019. PMID: 31327459 Free PMC article.
Pitfalls in counselling: the craniosynostoses.
Marini R, Temple K, Chitty L, Genet S, Baraitser M. Marini R, et al. J Med Genet. 1991 Feb;28(2):117-21. doi: 10.1136/jmg.28.2.117. J Med Genet. 1991. PMID: 2002481 Free PMC article.
Lipid-lowering therapy in patients with coronary heart disease: an Italian real-life survey. Results from the Survey on Risk FactOrs and CardiovascuLar secondary prEvention and drug strategieS (SOFOCLES) in Italy.
Aragona CO, Bianco A, Caruso R, Cerulli M, Cosentino N, Cittadini A, Gabriele M, Mallardo M, Marini R, Miserrafiti B, Palermo P, Galati A. Aragona CO, et al. Among authors: marini r. Monaldi Arch Chest Dis. 2024 Sep 10. doi: 10.4081/monaldi.2024.2972. Online ahead of print. Monaldi Arch Chest Dis. 2024. PMID: 39259232 Free article.
339 results