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Year Number of Results
2015 4
2016 2
2018 5
2019 7
2020 6
2021 4
2022 3
2023 3
2024 3

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32 results

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Page 1
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: garone g. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
Pediatric torticollis: clinical report and predictors of urgency of 1409 cases.
Raucci U, Roversi M, Ferretti A, Faccia V, Garone G, Panetta F, Mariani C, Rizzotto E, Torelli A, Colafati GS, Aulisa AG, Parisi P, Villani A. Raucci U, et al. Among authors: garone g. Ital J Pediatr. 2024 Apr 24;50(1):86. doi: 10.1186/s13052-024-01653-6. Ital J Pediatr. 2024. PMID: 38659045 Free PMC article.
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening.
Giannini R, Agolini E, Palumbo G, Novelli A, Garone G, Grasso M, Colafati GS, Matraxia M, Piccirilli E, Deodati A, Ceglie G. Giannini R, et al. Among authors: garone g. Front Pediatr. 2024 Jan 12;12:1319885. doi: 10.3389/fped.2024.1319885. eCollection 2024. Front Pediatr. 2024. PMID: 38283630 Free PMC article.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: garone g. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: garone g. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
"Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats.
Graziola F, Maffi S, Grasso M, Garone G, Migliore S, Scaricamazza E, Ceccarelli C, Casella M, Busi L, D'Alessio B, De Luca A, Colafati GS, Sabatini U, Capuano A, Squitieri F. Graziola F, et al. Among authors: garone g. J Pers Med. 2022 Jan 17;12(1):120. doi: 10.3390/jpm12010120. J Pers Med. 2022. PMID: 35055435 Free PMC article.
32 results