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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2021 | 3 |
2022 | 1 |
2023 | 2 |
2024 | 0 |
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7 results
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Page 1
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Hum Genet. 2021 Dec;140(12):1665-1678. doi: 10.1007/s00439-021-02343-7. Epub 2021 Aug 26.
Hum Genet. 2021.
PMID: 34448047
Free PMC article.
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations.
Martínez-González B, Soria ME, Vázquez-Sirvent L, Ferrer-Orta C, Lobo-Vega R, Mínguez P, de la Fuente L, Llorens C, Soriano B, Ramos-Ruíz R, Cortón M, López-Rodríguez R, García-Crespo C, Somovilla P, Durán-Pastor A, Gallego I, de Ávila AI, Delgado S, Morán F, López-Galíndez C, Gómez J, Enjuanes L, Salar-Vidal L, Esteban-Muñoz M, Esteban J, Fernández-Roblas R, Gadea I, Ayuso C, Ruíz-Hornillos J, Verdaguer N, Domingo E, Perales C.
Martínez-González B, et al.
Pathogens. 2022 Jun 8;11(6):662. doi: 10.3390/pathogens11060662.
Pathogens. 2022.
PMID: 35745516
Free PMC article.
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Molecular evidence of field cancerization initiated by diabetes in colon cancer patients.
Del Puerto-Nevado L, Minguez P, Corton M, Solanes-Casado S, Prieto I, Mas S, Sanz AB, Gonzalez-Alonso P, Villaverde C, Portal-Nuñez S, Aguilera O, Gomez-Guerrero C, Esbrit P, Vivanco F, Gonzalez N, Ayuso C, Ortiz A, Rojo F, Egido J, Alvarez-Llamas G, Garcia-Foncillas J; DiabetesCancerConnect Consortium.
Del Puerto-Nevado L, et al.
Mol Oncol. 2019 Apr;13(4):857-872. doi: 10.1002/1878-0261.12438. Epub 2019 Feb 16.
Mol Oncol. 2019.
PMID: 30628165
Free PMC article.
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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M.
Tamayo A, et al.
Int J Mol Sci. 2023 Jan 13;24(2):1562. doi: 10.3390/ijms24021562.
Int J Mol Sci. 2023.
PMID: 36675087
Free PMC article.
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VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Núñez-Moreno G, Tamayo A, Ruiz-Sánchez C, Cortón M, Mínguez P.
Núñez-Moreno G, et al.
Hum Genet. 2023 Apr;142(4):495-506. doi: 10.1007/s00439-023-02539-z. Epub 2023 Mar 7.
Hum Genet. 2023.
PMID: 36881176
Free PMC article.
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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M.
Damián A, et al.
Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713.
Int J Mol Sci. 2021.
PMID: 34884523
Free PMC article.
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Targeted Therapy Modulates the Secretome of Cancer-Associated Fibroblasts to Induce Resistance in HER2-Positive Breast Cancer.
Luque M, Sanz-Álvarez M, Santamaría A, Zazo S, Cristóbal I, de la Fuente L, Mínguez P, Eroles P, Rovira A, Albanell J, Madoz-Gúrpide J, Rojo F.
Luque M, et al.
Int J Mol Sci. 2021 Dec 10;22(24):13297. doi: 10.3390/ijms222413297.
Int J Mol Sci. 2021.
PMID: 34948097
Free PMC article.
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