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

Year Number of Results
1967 1
1968 1
1969 8
1970 5
1972 1
1974 1
1977 1
1982 1
1984 1
1985 1
1986 5
1988 2
1989 2
1990 3
1992 2
1994 3
1996 2
1997 5
1998 3
1999 3
2000 1
2001 11
2002 4
2003 12
2004 4
2005 1
2006 4
2008 4
2009 5
2010 12
2011 9
2012 11
2013 12
2014 10
2015 6
2016 9
2017 13
2018 2
2019 6
2020 10
2021 12
2022 11
2023 6
2024 7

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213 results

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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: leonardi e. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny A, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M, Sadikovic B. Vos N, et al. Among authors: leonardi e. Epigenomics. 2023 Mar;15(6):351-367. doi: 10.2217/epi-2023-0079. Epub 2023 May 30. Epigenomics. 2023. PMID: 37249002
Integrating extracellular vesicle and circulating cell-free DNA analysis using a single plasma aliquot improves the detection of HER2 positivity in breast cancer patients.
Mugoni V, Ciani Y, Quaini O, Tomasini S, Notarangelo M, Vannuccini F, Marinelli A, Leonardi E, Pontalti S, Martinelli A, Rossetto D, Pesce I, Mansy SS, Barbareschi M, Ferro A, Caffo O, Attard G, Di Vizio D, D'Agostino VG, Nardella C, Demichelis F. Mugoni V, et al. Among authors: leonardi e. J Extracell Biol. 2023 Sep;2(9):e108. doi: 10.1002/jex2.108. Epub 2023 Sep 25. J Extracell Biol. 2023. PMID: 38046436 Free PMC article.
SARS-CoV-2-The Role of Natural Immunity: A Narrative Review.
Diani S, Leonardi E, Cavezzi A, Ferrari S, Iacono O, Limoli A, Bouslenko Z, Natalini D, Conti S, Mantovani M, Tramonte S, Donzelli A, Serravalle E. Diani S, et al. Among authors: leonardi e. J Clin Med. 2022 Oct 25;11(21):6272. doi: 10.3390/jcm11216272. J Clin Med. 2022. PMID: 36362500 Free PMC article. Review.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Critical assessment of protein intrinsic disorder prediction.
Necci M, Piovesan D; CAID Predictors; DisProt Curators; Tosatto SCE. Necci M, et al. Nat Methods. 2021 May;18(5):472-481. doi: 10.1038/s41592-021-01117-3. Epub 2021 Apr 19. Nat Methods. 2021. PMID: 33875885 Free PMC article.
213 results