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Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: sanchez a, sanchez valle r. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Deletion of the OPHN1 gene detected by aCGH.
Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Milà M. Madrigal I, et al. Among authors: sanchez a. J Intellect Disabil Res. 2008 Mar;52(Pt 3):190-4. doi: 10.1111/j.1365-2788.2007.00997.x. J Intellect Disabil Res. 2008. PMID: 18261018
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.
46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.
Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: sanchez a. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059
5,268 results