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2014 1
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Page 1
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.
Ergoren MC, Akcan N, Manara E, Paolacci S, Fahrioğlu U, Betmezoglu M, Bundak R, Mocan G, Temel SG, Bertelli M. Ergoren MC, et al. Among authors: paolacci s. Appl Immunohistochem Mol Morphol. 2022 Oct 1;30(9):635-639. doi: 10.1097/PAI.0000000000001056. Epub 2022 Sep 13. Appl Immunohistochem Mol Morphol. 2022. PMID: 36093893
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
Michelini S, Herbst KL, Precone V, Manara E, Marceddu G, Dautaj A, Maltese PE, Paolacci S, Ceccarini MR, Beccari T, Sorrentino E, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, Bertelli M. Michelini S, et al. Among authors: paolacci s. J Pers Med. 2022 Feb 11;12(2):268. doi: 10.3390/jpm12020268. J Pers Med. 2022. PMID: 35207755 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: paolacci s. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Ceccarini MR, Precone V, Manara E, Paolacci S, Maltese PE, Benfatti V, Dhuli K, Donato K, Guerri G, Marceddu G, Chiurazzi P, Dalla Ragione L, Beccari T, Bertelli M. Ceccarini MR, et al. Among authors: paolacci s. Eat Weight Disord. 2022 Jun;27(5):1869-1880. doi: 10.1007/s40519-021-01331-0. Epub 2021 Nov 25. Eat Weight Disord. 2022. PMID: 34822136
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
Precone V, Notarangelo A, Marceddu G, D'Agruma L, Cannarella R, Calogero AE, Cristofoli F, Guerri G, Paolacci S, Castori M, Bertelli M. Precone V, et al. Among authors: paolacci s. Minerva Endocrinol (Torino). 2022 Mar;47(1):4-10. doi: 10.23736/S2724-6507.21.03477-1. Epub 2021 May 14. Minerva Endocrinol (Torino). 2022. PMID: 33988008
54 results