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

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2007 1
2008 3
2009 2
2010 3
2011 5
2012 4
2013 4
2014 3
2015 4
2016 3
2017 4
2018 6
2019 4
2020 4
2021 9
2022 6
2023 9
2024 2

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72 results

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Page 1
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: piluso g. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Are SHROOM4 loss-of-function variants pathogenic?
Peduto C, Piluso G, Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: piluso g. Am J Med Genet A. 2022 Nov;188(11):3374-3375. doi: 10.1002/ajmg.a.62935. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 36209347 No abstract available.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: piluso g. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
Zacchia M, Capolongo G, Del Vecchio Blanco F, Secondulfo F, Gupta N, Blasio G, Pollastro RM, Cervesato A, Piluso G, Gigliotti G, Torella A, Nigro V, Perna AF, Capasso G, Trepiccione F. Zacchia M, et al. Among authors: piluso g. Genes (Basel). 2023 Mar 21;14(3):764. doi: 10.3390/genes14030764. Genes (Basel). 2023. PMID: 36981034 Free PMC article.
Therapeutic homology-independent targeted integration in retina and liver.
Tornabene P, Ferla R, Llado-Santaeularia M, Centrulo M, Dell'Anno M, Esposito F, Marrocco E, Pone E, Minopoli R, Iodice C, Nusco E, Rossi S, Lyubenova H, Manfredi A, Di Filippo L, Iuliano A, Torella A, Piluso G, Musacchia F, Surace EM, Cacchiarelli D, Nigro V, Auricchio A. Tornabene P, et al. Among authors: piluso g. Nat Commun. 2022 Apr 12;13(1):1963. doi: 10.1038/s41467-022-29550-8. Nat Commun. 2022. PMID: 35414130 Free PMC article.
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome.
Gicchino MF, Piluso G, Giugliano T, Cirillo M, Olivieri AN, Santoro C. Gicchino MF, et al. Among authors: piluso g. Indian Pediatr. 2021 Dec 15;58(12):1187-1188. Indian Pediatr. 2021. PMID: 34939585 Free article. No abstract available.
72 results