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Year | Number of Results |
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2020 | 1 |
2023 | 2 |
2024 | 0 |
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
Eur J Hum Genet. 2023.
PMID: 36879111
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A.
Pavinato L, et al. Among authors: carestiato s.
Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
Brain. 2023.
PMID: 35979925
Free PMC article.
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Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
Candiani S, Carestiato S, Mack AF, Bani D, Bozzo M, Obino V, Ori M, Rosamilia F, De Sarlo M, Pestarino M, Ceccherini I, Bachetti T.
Candiani S, et al. Among authors: carestiato s.
Genes (Basel). 2020 Dec 11;11(12):1490. doi: 10.3390/genes11121490.
Genes (Basel). 2020.
PMID: 33322348
Free PMC article.
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