Centro de Investigación en Medicina Molecular e Enfermidades Crónicas (CIMUS)
Einzigartiges Zentrum
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (60)
2024
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Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study
The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944
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 genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93
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A second update on mapping the human genetic architecture of COVID-19
Nature
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
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Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
Diabetes, Vol. 72, Núm. 1, pp. 71-84
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Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report
Frontiers in Pharmacology, Vol. 14
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
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Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))
Nature
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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Nature, Vol. 617, Núm. 7962, pp. 764-768
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HLA alleles: important pieces to the COVID-19 puzzle
Trends in Immunology
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HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19
HLA, Vol. 102, Núm. 6, pp. 731-739
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Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?
Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717
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NAD pool as an antitumor target against cancer stem cells in head and neck cancer
Journal of Experimental and Clinical Cancer Research, Vol. 42, Núm. 1
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Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19
Translational Psychiatry, Vol. 13, Núm. 1
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The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
2022
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An updated view on human neonatal thermogenesis
Nature Reviews Endocrinology
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How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders
Journal of Cognition and Development, Vol. 23, Núm. 5, pp. 776-790
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Hypothalamic pregnenolone mediates recognition memory in the context of metabolic disorders
Cell Metabolism, Vol. 34, Núm. 2, pp. 269-284.e9
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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood
eLife, Vol. 11