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

Year Number of Results
1964 1
1965 1
1972 2
1979 2
1981 1
1988 1
1990 2
2005 3
2009 1
2017 1
2018 5
2019 4
2021 5
2022 6
2023 9
2024 5

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42 results

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Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Zeev BB, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: grilli f. Brain. 2023 Dec 1:awad403. doi: 10.1093/brain/awad403. Online ahead of print. Brain. 2023. PMID: 38038360
Optical coherence tomography angiography findings in Williams-Beuren syndrome.
Nassisi M, Mainetti C, Sperti A, Galmozzi G, Aretti A, Leone G, Nicotra V, Grilli F, Rinaldi B, Natacci F, Bedeschi MF, Viola F. Nassisi M, et al. Among authors: grilli f. Graefes Arch Clin Exp Ophthalmol. 2024 Apr;262(4):1131-1140. doi: 10.1007/s00417-023-06323-7. Epub 2023 Nov 30. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38032380
CATSHL syndrome, a new family and phenotypic expansion.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L. Cannova S, et al. Among authors: grilli f. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: grilli f. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
42 results