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Clinical Characteristics and Risk Factors for Mortality in Very Old Patients Hospitalized With COVID-19 in Spain.
- Published in:
- 2021
- By:
- Publication type:
- Journal Article
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03925-1
- By:
- Publication type:
- Article
Nosocomial COVID-19: A Nationwide Spanish Study.
- Published in:
- Gerontology, 2023, v. 69, n. 6, p. 671, doi. 10.1159/000527711
- By:
- Publication type:
- Article
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.
- Published in:
- Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00353-3
- By:
- Publication type:
- Article
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7
- By:
- Publication type:
- Article
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13964, doi. 10.3390/ijms232213964
- By:
- Publication type:
- Article
Usher Syndrome: Genetics of a Human Ciliopathy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6723, doi. 10.3390/ijms22136723
- By:
- Publication type:
- Article
Neurotoxicidad por metronidazol.
- Published in:
- Medicina Interna de Mexico, 2022, v. 38, n. 5, p. 1096, doi. 10.24245/mim.v38i5.4556
- By:
- Publication type:
- Article
Malnutrition and sarcopenia worsen short- and long-term outcomes in internal medicine inpatients.
- Published in:
- Postgraduate Medical Journal, 2023, v. 99, n. 1168, p. 56, doi. 10.1093/postmj/qgad006
- By:
- Publication type:
- Article
Assessment of the latest NGS enrichment capture methods in clinical context.
- Published in:
- Scientific Reports, 2016, p. 20948, doi. 10.1038/srep20948
- By:
- Publication type:
- Article
Analysis of the <i>Ush2a</i> Gene in Medaka Fish (<i>Oryzias latipes</i>).
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074995
- By:
- Publication type:
- Article
Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057506
- By:
- Publication type:
- Article
Ethnicity and Clinical Outcomes in Patients Hospitalized for COVID-19 in Spain: Results from the Multicenter SEMI-COVID-19 Registry.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1949, doi. 10.3390/jcm11071949
- By:
- Publication type:
- Article
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
- Published in:
- Cancers, 2023, v. 15, n. 17, p. 4263, doi. 10.3390/cancers15174263
- By:
- Publication type:
- Article
Genetic Screening of the Usher Syndrome in Cuba.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
- By:
- Publication type:
- Article
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
- Published in:
- Molecular Vision, 2020, v. 26, p. 216
- By:
- Publication type:
- Article
Prognostic Value of D-dimer to Lymphocyte Ratio (DLR) in Hospitalized Coronavirus Disease 2019 (COVID-19) Patients: A Validation Study in a National Cohort.
- Published in:
- Viruses (1999-4915), 2024, v. 16, n. 3, p. 335, doi. 10.3390/v16030335
- By:
- Publication type:
- Article
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
- By:
- Publication type:
- Article
WHO Ordinal Scale and Inflammation Risk Categories in COVID-19. Comparative Study of the Severity Scales.
- Published in:
- JGIM: Journal of General Internal Medicine, 2022, v. 37, p. 1980, doi. 10.1007/s11606-022-07511-7
- By:
- Publication type:
- Article
Genetic Testing for Rare Diseases.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Use of glucocorticoids megadoses in SARS-CoV-2 infection in a spanish registry: SEMI-COVID-19.
- Published in:
- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0261711
- By:
- Publication type:
- Article
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
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- Publication type:
- Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
- By:
- Publication type:
- Article
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
- By:
- Publication type:
- Article
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352063
- By:
- Publication type:
- Article
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467
- By:
- Publication type:
- Article
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 473, doi. 10.3390/genes11050473
- By:
- Publication type:
- Article
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048
- By:
- Publication type:
- Article
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42735-5
- By:
- Publication type:
- Article
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42735-5
- By:
- Publication type:
- Article
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 2, p. 229, doi. 10.1515/cclm-2017-0226
- By:
- Publication type:
- Article
Clusters of inflammation in COVID-19: descriptive analysis and prognosis on more than 15,000 patients from the Spanish SEMI-COVID-19 Registry.
- Published in:
- Internal & Emergency Medicine, 2022, v. 17, n. 4, p. 1115, doi. 10.1007/s11739-021-02924-4
- By:
- Publication type:
- Article
Differences in clinical features and mortality in very old unvaccinated patients (≥ 80 years) hospitalized with COVID-19 during the first and successive waves from the multicenter SEMI-COVID-19 Registry (Spain).
- Published in:
- BMC Geriatrics, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12877-022-03191-4
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- Publication type:
- Article