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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 5
2004 1
2005 2
2006 3
2007 2
2008 1
2009 4
2010 2
2011 1
2012 3
2013 1
2014 2
2015 6
2016 2
2017 3
2018 4
2019 2
2020 7
2021 5
2022 6
2023 6
2024 2

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67 results

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Page 1
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: gentile m. Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z. Nat Commun. 2023. PMID: 36928426 Free PMC article.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: gentile m. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: gentile m. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: gentile m. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
'Compressed Baby Head': A New 'Abusive Head Trauma' Entity?
Macorano E, Gentile M, Stellacci G, Manzionna M, Mele F, Calvano M, Leonardelli M, Duma S, De Gabriele G, Cristalli A, Minella R, Di Fazio A, Introna F. Macorano E, et al. Among authors: gentile m. Children (Basel). 2023 Jun 2;10(6):1003. doi: 10.3390/children10061003. Children (Basel). 2023. PMID: 37371236 Free PMC article.
67 results