Osasun Zientziak
Ezagutza arloa
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Institució Catalana de Recerca i Estudis Avançats
Barcelona, EspañaInstitució Catalana de Recerca i Estudis Avançats-ko ikertzaileekin lankidetzan egindako argitalpenak (65)
2024
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Sex differences in neural projections of fear memory processing in mice and humans
Science Advances, Vol. 10, Núm. 28
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Application of new technologies in embryos: From gene editing to synthetic embryos
Human Reproductive and Prenatal Genetics (Elsevier), pp. 853-886
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)
Nature
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833
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Pathogenic Mis-splicing of CPEB4 in Schizophrenia
Biological Psychiatry, Vol. 94, Núm. 4, pp. 341-351
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Serum DNA methylome of the colorectal cancer serrated pathway enables non-invasive detection
Molecular Oncology
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Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas
Clinical Epigenetics, Vol. 15, Núm. 1
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Spastic Paraplegia Type 7 (SPG7)
Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695
2022
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Detailed stratified GWAS analysis for severe COVID-19 in four European populations
Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
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Look-alike humans identified by facial recognition algorithms show genetic similarities
Cell Reports, Vol. 40, Núm. 8
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Adrenergic Modulation With Photochromic Ligands
Angewandte Chemie - International Edition, Vol. 60, Núm. 7, pp. 3625-3631
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Follow-up study confirms the presence of gastric cancer dna methylation hallmarks in high-risk precursor lesions
Cancers, Vol. 13, Núm. 11
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Genomic analysis of 18th-century kazakh individuals and their oral microbiome
Biology, Vol. 10, Núm. 12
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
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Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease
Autophagy, Vol. 17, Núm. 3, pp. 672-689