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498 results

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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, Ben-Zeev B, 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: marchisio p. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
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. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933
Disrupted Seasonality of Respiratory Viruses: Retrospective Analysis of Pediatric Hospitalizations in Italy from 2019 to 2023.
Palmas G, Trapani S, Agosti M, Alberti I, Aricò M, Azzari C, Bresesti I, Bressan S, Caselli D, Cazzato S, Da Dalt L, Felici E, Garazzino S, Giannattasio A, Iudica G, Lanari M, Marchisio P, Martelli G, Milani GP, Soro F, Piccotti E, Tirelli F, Resti M, Indolfi G; Associazione Ospedali Pediatrici Italiani (AOPI) Network. Palmas G, et al. Among authors: marchisio p. J Pediatr. 2024 May;268:113932. doi: 10.1016/j.jpeds.2024.113932. Epub 2024 Feb 1. J Pediatr. 2024. PMID: 38309520
Long-lasting effects of COVID-19 pandemic on hospitalizations and severity of bronchiolitis.
Milani GP, Ronchi A, Agostoni C, Marchisio P, Chidini G, Pesenti N, Bellotti A, Cugliari M, Crimi R, Fabiano V, Pietrasanta C, Pugni L, Mosca F; IRIDE study group. Milani GP, et al. Among authors: marchisio p. Eur J Pediatr. 2024 Apr;183(4):1751-1758. doi: 10.1007/s00431-023-05395-1. Epub 2024 Jan 18. Eur J Pediatr. 2024. PMID: 38236404 Free PMC article.
498 results