Xenética
Servizo
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Hospital Clinic Barcelona
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (14)
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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A second update on mapping the human genetic architecture of COVID-19
Nature
2022
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Parkinsonism and Related Disorders, Vol. 94, pp. 67-78
2021
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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
2020
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Author Correction: Identification and characterization of Cardiac Glycosides as senolytic compounds (Nature Communications, (2019), 10, 1, (4731), 10.1038/s41467-019-12888-x)
Nature Communications
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Baseline predictors for visual acuity loss during observation in diabetic macular oedema with good baseline visual acuity
Acta Ophthalmologica, Vol. 98, Núm. 7, pp. e801-e806
2019
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Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347
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Real-world outcomes of observation and treatment in diabetic macular edema with very good visual acuity: the OBTAIN study
Acta Diabetologica
2017
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Genetic analysis in post-mortem samples with micro-ischemic alterations
Forensic Science International, Vol. 271, pp. 120-125
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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer
Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743
2016
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Comprehensive molecular testing in patients with high functioning autism spectrum disorder
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52
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Natural and undetermined sudden death: Value of post-mortem genetic investigation
PLoS ONE, Vol. 11, Núm. 12
2015
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome
European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85
2014
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Brugada syndrome and p.E61X_RANGRF
Cardiology Journal, Vol. 21, Núm. 2, pp. 121-127