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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207.
Int J Mol Sci. 2021.
PMID: 34281261
Free PMC article.
Review.
Narrative medicine to investigate the quality of life and emotional impact of inherited retinal disorders through the perspectives of patients, caregivers and clinicians: an Italian multicentre project.
Simonelli F, Sodi A, Falsini B, Bacci G, Iarossi G, Di Iorio V, Giorgio D, Placidi G, Andrao A, Reale L, Fiorencis A, Aoun M; BIRDS Working Group.
Simonelli F, et al.
BMJ Open. 2022 Sep 19;12(9):e061080. doi: 10.1136/bmjopen-2022-061080.
BMJ Open. 2022.
PMID: 36123082
Free PMC article.
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Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
Capone GL, Putignano AL, Trujillo Saavedra S, Paganini I, Sestini R, Gensini F, De Rienzo I, Papi L, Porfirio B.
Capone GL, et al. Among authors: de rienzo i.
J Mol Diagn. 2018 Jan;20(1):87-94. doi: 10.1016/j.jmoldx.2017.09.005. Epub 2017 Oct 20.
J Mol Diagn. 2018.
PMID: 29061375
Free article.
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