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Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Cristofoli F, Sorrentino E, Guerri G, Miotto R, Romanelli R, Zulian A, Cecchin S, Paolacci S, Miertus J, Bertelli M, Maltese PE, Chiurazzi P, Stuppia L, Castori M, Marceddu G. Cristofoli F, et al. Among authors: castori m. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.
Genetic analysis of genes associated with epilepsy.
Guerri G, Castori M, D'Agruma L, Petracca A, Kurti D, Bertelli M. Guerri G, et al. Among authors: castori m. Acta Biomed. 2020 Nov 9;91(13-S):e2020005. doi: 10.23750/abm.v91i13-S.10596. Acta Biomed. 2020. PMID: 33170158 Free PMC article. Review.
Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.
Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D'Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Bertelli M. Kiani AK, et al. Among authors: castori m. Acta Biomed. 2020 Nov 9;91(13-S):e2020018. doi: 10.23750/abm.v91i13-S.10525. Acta Biomed. 2020. PMID: 33170179 Free PMC article. Review.
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D'Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Buffelli F, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Pös O, Szemes T, Bertelli M. Kiani AK, et al. Among authors: castori m. Acta Biomed. 2020 Nov 9;91(13-S):e2020021. doi: 10.23750/abm.v91i13-S.10534. Acta Biomed. 2020. PMID: 33170180 Free PMC article.
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M. Micale L, et al. Among authors: castori m. Genes (Basel). 2020 Dec 17;11(12):1513. doi: 10.3390/genes11121513. Genes (Basel). 2020. PMID: 33348901 Free PMC article.
261 results