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

Year Number of Results
2002 2
2003 1
2004 3
2005 6
2006 2
2007 5
2008 2
2009 3
2010 2
2011 4
2012 4
2013 1
2014 2
2015 5
2016 1
2017 5
2018 8
2019 10
2020 15
2021 8
2022 16
2023 8
2024 4

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105 results

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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: pedemonte n. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Innovative Strategy toward Mutant CFTR Rescue in Cystic Fibrosis: Design and Synthesis of Thiadiazole Inhibitors of the E3 Ligase RNF5.
Brusa I, Sondo E, Pesce E, Tomati V, Gioia D, Falchi F, Balboni B, Ortega Martínez JA, Veronesi M, Romeo E, Margaroli N, Recanatini M, Girotto S, Pedemonte N, Roberti M, Cavalli A. Brusa I, et al. Among authors: pedemonte n. J Med Chem. 2023 Jul 27;66(14):9797-9822. doi: 10.1021/acs.jmedchem.3c00608. Epub 2023 Jul 13. J Med Chem. 2023. PMID: 37440686 Free PMC article.
Patient's dermal fibroblasts as disease markers for visceral myopathy.
Viti F, Pramotton FM, Martufi M, Magrassi R, Pedemonte N, Nizzari M, Zanacchi FC, De Michele B, Alampi M, Zambito M, Santamaria G, Bajetto A, Sardar S, Tomati V, Gandullia P, Giampietro C, Florio T, Beltrame F, Vassalli M, Ceccherini I. Viti F, et al. Among authors: pedemonte n. Biomater Adv. 2023 May;148:213355. doi: 10.1016/j.bioadv.2023.213355. Epub 2023 Feb 23. Biomater Adv. 2023. PMID: 36893487 Free article.
105 results