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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: skabar a. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
CTNND2 deletion and intellectual disability.
Belcaro C, Dipresa S, Morini G, Pecile V, Skabar A, Fabretto A. Belcaro C, et al. Among authors: skabar a. Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1. Gene. 2015. PMID: 25839933
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: skabar a. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632
Adolescent with unilateral vision loss.
Mazzolai M, Skabar A, Parentin F, Barbi E. Mazzolai M, et al. Among authors: skabar a. Arch Dis Child Educ Pract Ed. 2020 Jun;105(3):174-176. doi: 10.1136/archdischild-2018-316153. Epub 2019 Jan 7. Arch Dis Child Educ Pract Ed. 2020. PMID: 30617152 No abstract available.
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort.
Po' C, Nosadini M, Zedde M, Pascarella R, Mirone G, Cicala D, Rosati A, Cosi A, Toldo I, Colombatti R, Martelli P, Iodice A, Accorsi P, Giordano L, Savasta S, Foiadelli T, Sanfilippo G, Lafe E, Thyrion FZ, Polonara G, Campa S, Raviglione F, Scelsa B, Bova SM, Greco F, Cordelli DM, Cirillo L, Toni F, Baro V, Causin F, Frigo AC, Suppiej A, Sainati L, Azzolina D, Agostini M, Cesaroni E, De Carlo L, Di Rosa G, Esposito G, Grazian L, Morini G, Nicita F, Operto FF, Pruna D, Ragazzi P, Rollo M, Spalice A, Striano P, Skabar A, Lanterna LA, Carai A, Marras CE, Manara R, Sartori S. Po' C, et al. Among authors: skabar a. Front Pediatr. 2022 May 6;10:892445. doi: 10.3389/fped.2022.892445. eCollection 2022. Front Pediatr. 2022. PMID: 35601411 Free PMC article.
Child with intermittent diplopia after otitis media.
Caddeo G, Skabar A, Gregori M, Barbi E, Cozzi G. Caddeo G, et al. Among authors: skabar a. Arch Dis Child Educ Pract Ed. 2020 Oct;105(5):306-307. doi: 10.1136/archdischild-2018-316307. Epub 2019 Feb 1. Arch Dis Child Educ Pract Ed. 2020. PMID: 30709939 No abstract available.
23 results