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

Year Number of Results
1984 2
1985 5
1986 5
1987 4
1988 1
1989 7
1990 2
1991 2
1992 5
1993 4
1994 3
1996 4
1997 1
1998 1
1999 5
2000 5
2001 7
2002 3
2003 5
2004 4
2005 4
2006 5
2007 5
2008 4
2009 5
2010 11
2011 9
2012 11
2013 8
2014 10
2015 19
2016 11
2017 15
2018 19
2019 13
2020 22
2021 33
2022 22
2023 22
2024 13

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292 results

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Page 1
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Language and the cerebellum.
Mariën P, Borgatti R. Mariën P, et al. Among authors: borgatti r. Handb Clin Neurol. 2018;154:181-202. doi: 10.1016/B978-0-444-63956-1.00011-4. Handb Clin Neurol. 2018. PMID: 29903439 Review.
Tubulin genes and malformations of cortical development.
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Romaniello R, et al. Among authors: borgatti r. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Eur J Med Genet. 2018. PMID: 30016746 Review.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C; Sanger Mouse Genetics Project; Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. Kannan M, et al. Among authors: borgatti r. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12. Proc Natl Acad Sci U S A. 2017. PMID: 29078390 Free PMC article.
Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Among authors: borgatti r. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
Epilepsy in Tubulinopathy: Personal Series and Literature Review.
Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Cells. 2019 Jul 2;8(7):669. doi: 10.3390/cells8070669. Cells. 2019. PMID: 31269740 Free PMC article. Review.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: borgatti r. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C. Varesio C, et al. Among authors: borgatti r. Orphanet J Rare Dis. 2023 Mar 21;18(1):63. doi: 10.1186/s13023-023-02628-2. Orphanet J Rare Dis. 2023. PMID: 36944981 Free PMC article.
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Among authors: borgatti r. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
292 results