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Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: codina a. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Clinical and molecular characterization of steatotic liver disease in the setting of immune-mediated inflammatory diseases.
García-Nieto E, Rodriguez-Duque JC, Rivas-Rivas C, Iruzubieta P, Garcia MJ, Rasines L, Alvarez-Cancelo A, García-Blanco A, Fortea JI, Puente A, Castro B, Cagigal ML, Rueda-Gotor J, Blanco R, Rivero M, Armesto S, González-López MA, Codina AE, Gut M, Vaque JP, Crespo J, Arias-Loste MT. García-Nieto E, et al. Among authors: codina ae. JHEP Rep. 2024 Jul 8;6(10):101167. doi: 10.1016/j.jhepr.2024.101167. eCollection 2024 Oct. JHEP Rep. 2024. PMID: 39411649 Free PMC article.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: codina a. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
Standardization of the definition of the types of oncological colectomy. Delphi method for consensus of experts of the Spanish Association of Surgeons.
Garcia-Granero A, Martín-Martín GP, Dujovne-Lindenbaum P, Alvarez Laso CJ, Cerdán-Santacruz C, Flor-Lorente B, Biondo S; miembros de la Junta de la Sección Coloproctología de la AEC y colaboradores en la confección del presente estudio. Garcia-Granero A, et al. Cir Esp (Engl Ed). 2024 Sep;102(9):484-494. doi: 10.1016/j.cireng.2024.05.012. Epub 2024 Jun 6. Cir Esp (Engl Ed). 2024. PMID: 38851318
225 results