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Page 1
Syndromic infertility.
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M. Guerri G, et al. Among authors: miertus j. Acta Biomed. 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. Acta Biomed. 2019. PMID: 31577259 Free PMC article. Review.
Oguchi type I caused by a homozygous missense variation in the SAG gene.
Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L. Colombo L, et al. Among authors: miertus j. Eur J Med Genet. 2019 Sep;62(9):103548. doi: 10.1016/j.ejmg.2018.09.015. Epub 2018 Sep 27. Eur J Med Genet. 2019. PMID: 30267901
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D'Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M. Frecer V, et al. Among authors: miertus j. J Transl Med. 2019 Oct 1;17(1):330. doi: 10.1186/s12967-019-2080-3. J Transl Med. 2019. PMID: 31570112 Free PMC article.
Hydroxytyrosol: A natural compound with promising pharmacological activities.
Bertelli M, Kiani AK, Paolacci S, Manara E, Kurti D, Dhuli K, Bushati V, Miertus J, Pangallo D, Baglivo M, Beccari T, Michelini S. Bertelli M, et al. Among authors: miertus j. J Biotechnol. 2020 Feb 10;309:29-33. doi: 10.1016/j.jbiotec.2019.12.016. Epub 2019 Dec 26. J Biotechnol. 2020. PMID: 31884046 Review.
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L, Miertus J, Maltese PE, Bressan S, De Antoni L, Podracká L, Piteková L, Rísová V, Mällo M, Jaakson K, Joost K, Colombo L, Bertelli M. Gatticchi L, et al. Among authors: miertus j. BMC Med Genet. 2020 Sep 1;21(1):173. doi: 10.1186/s12881-020-01110-1. BMC Med Genet. 2020. PMID: 32867697 Free PMC article.
Genetic analysis of intellectual disability and autism.
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M. Chiurazzi P, et al. Among authors: miertus j. Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. Acta Biomed. 2020. PMID: 33170170 Free PMC article. Review.
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Gatticchi L, et al. Among authors: miertus j. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724725 Free PMC article.
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: miertus j. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.
25 results