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Year Number of Results
1997 1
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2006 5
2007 2
2008 1
2009 1
2011 1
2012 1
2013 8
2014 10
2015 6
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2017 10
2018 3
2019 4
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2024 11

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81 results

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Page 1
Less common manifestations in TSC.
Boronat S, Barber I. Boronat S, et al. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):348-354. doi: 10.1002/ajmg.c.31648. Epub 2018 Aug 29. Am J Med Genet C Semin Med Genet. 2018. PMID: 30156054 Review.
Neurologic Care of COVID-19 in Children.
Boronat S. Boronat S. Front Neurol. 2021 Feb 18;11:613832. doi: 10.3389/fneur.2020.613832. eCollection 2020. Front Neurol. 2021. PMID: 33679571 Free PMC article. Review.
Thiol-based H2O2 signalling in microbial systems.
Boronat S, Domènech A, Paulo E, Calvo IA, García-Santamarina S, García P, Encinar Del Dedo J, Barcons A, Serrano E, Carmona M, Hidalgo E. Boronat S, et al. Redox Biol. 2014 Feb 3;2:395-9. doi: 10.1016/j.redox.2014.01.015. eCollection 2014. Redox Biol. 2014. PMID: 24563858 Free PMC article. Review.
Linking mitosis with S-phase: Cdc6 at play.
Boronat S, Campbell JL. Boronat S, et al. Cell Cycle. 2008 Mar 1;7(5):597-601. doi: 10.4161/cc.7.5.5519. Epub 2008 Jan 3. Cell Cycle. 2008. PMID: 18256547 Review.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Perry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Brünger T, Wojnaroski M, Maru B, O'Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Perry MS, et al. Among authors: boronat s. Epilepsia. 2024 Feb;65(2):322-337. doi: 10.1111/epi.17850. Epub 2023 Dec 22. Epilepsia. 2024. PMID: 38049202 Free article.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: boronat s. Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29. Eur J Hum Genet. 2024. PMID: 38282074 Free PMC article.
81 results