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Correction: 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):366. doi: 10.1038/s41431-024-01561-7. Eur J Hum Genet. 2024. PMID: 38355964 Free PMC article. No abstract available.
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.
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group; García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V. Cabral de Almeida Cardoso L, et al. PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015. PLoS One. 2015. PMID: 26317783 Free PMC article.
Esophageal desquamation in pediatrics. Esophagitis dissecans superficialis.
Surinyac-Ayats B, Serra Font S, Betancourt J, Szafranska J, Boronat S. Surinyac-Ayats B, et al. Among authors: boronat s. An Pediatr (Engl Ed). 2024 May 18:S2341-2879(24)00141-8. doi: 10.1016/j.anpede.2024.05.002. Online ahead of print. An Pediatr (Engl Ed). 2024. PMID: 38763790 Free article. No abstract available.
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.
Seizures in children undergoing stem cell transplantation.
Turón-Viñas E, López-Torija I, Coca-Fernández E, Badell I, Sierra-Marcos A, Turón M, Ribosa-Nogué R, Boronat S. Turón-Viñas E, et al. Among authors: boronat s. Pediatr Transplant. 2024 Feb;28(1):e14619. doi: 10.1111/petr.14619. Epub 2023 Oct 6. Pediatr Transplant. 2024. PMID: 37803946
77 results