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

Year Number of Results
2002 1
2006 2
2008 1
2009 1
2011 1
2012 2
2013 1
2014 3
2017 1
2018 2
2019 1
2020 5
2021 3
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22 results
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Page 1
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: polli r. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: polli r. Hum Mutat. 2020 Jun;41(6):1183. doi: 10.1002/humu.24012. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32400065 No abstract available.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM. Vera G, et al. Among authors: polli r. Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17. Eur J Med Genet. 2020. PMID: 32688057
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E, Bellini M, Aspromonte MC, Polli R, Mercante A, Ciaccio C, Granocchio E, Bettella E, Donati I, Cainelli E, Boni S, Sartori S, Pantaleoni C, Boniver C, Murgia A. Leonardi E, et al. Among authors: polli r. Genes (Basel). 2020 Mar 24;11(3):344. doi: 10.3390/genes11030344. Genes (Basel). 2020. PMID: 32214004 Free PMC article.
Genetics and mathematics: FMR1 premutation female carriers.
Semenza C, Bonollo S, Polli R, Busana C, Pignatti R, Iuculano T, Maria Laverda A, Priftis K, Murgia A. Semenza C, et al. Among authors: polli r. Neuropsychologia. 2012 Dec;50(14):3757-63. doi: 10.1016/j.neuropsychologia.2012.10.021. Epub 2012 Nov 1. Neuropsychologia. 2012. PMID: 23123760
Distribution of AGG interruption patterns within nine world populations.
Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F. Yrigollen CM, et al. Among authors: polli r. Intractable Rare Dis Res. 2014 Nov;3(4):153-61. doi: 10.5582/irdr.2014.01028. Intractable Rare Dis Res. 2014. PMID: 25606365 Free PMC article.
22 results