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

Year Number of Results
2008 1
2009 1
2010 3
2011 4
2012 2
2013 3
2014 4
2015 5
2016 3
2017 4
2018 5
2019 3
2020 6
2021 9
2022 11
2023 5
2024 4

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59 results

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Page 1
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: alfieri p. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Among authors: alfieri p. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Among authors: alfieri p. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Montanaro FAM, Alfieri P, Caciolo C, Cumbo F, Piga S, Tartaglia M, Licchelli S, Digilio MC, Vicari S. Montanaro FAM, et al. Among authors: alfieri p. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):510-519. doi: 10.1002/ajmg.c.32025. Epub 2022 Dec 9. Am J Med Genet C Semin Med Genet. 2022. PMID: 36490374 Free PMC article.
59 results