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Page 1
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
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.
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A.
Aguilera C, et al. Among authors: capdevila n.
PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021.
PLoS One. 2021.
PMID: 34653234
Free PMC article.
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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N, Trujillo-Quintero JP, Manso C, Gabau E, Capdevila N, Martinez-Glez V, Berenguer-Llergo A, Reyes S, Brunet A, Baena N, Guitart M, Ruiz A.
Spataro N, et al. Among authors: capdevila n.
Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708.
Genes (Basel). 2023.
PMID: 36980980
Free PMC article.
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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M.
Aguilera C, et al. Among authors: capdevila n.
BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x.
BMC Med Genet. 2017.
PMID: 29162042
Free PMC article.
Review.
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Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Manso-Bazús C, Spataro N, Gabau E, Beltrán-Salazar VP, Trujillo-Quintero JP, Capdevila N, Brunet-Vega A, Baena N, Jeyaprakash AA, Martinez-Glez V, Ruiz A.
Manso-Bazús C, et al. Among authors: capdevila n.
Front Genet. 2024 Jan 31;15:1291063. doi: 10.3389/fgene.2024.1291063. eCollection 2024.
Front Genet. 2024.
PMID: 38356699
Free PMC article.
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Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.
Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A.
Aguilera C, et al. Among authors: capdevila n.
Mol Genet Genomic Med. 2019 Jan;7(1):e00511. doi: 10.1002/mgg3.511. Epub 2018 Dec 11.
Mol Genet Genomic Med. 2019.
PMID: 30548424
Free PMC article.
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Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.
Corripio R, Tubau C, Calvo L, Brun C, Capdevila N, Larramona H, Gabau E.
Corripio R, et al. Among authors: capdevila n.
J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):879-884. doi: 10.1515/jpem-2018-0539.
J Pediatr Endocrinol Metab. 2019.
PMID: 31271556
Clinical Trial.
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