Found: 12
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Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions.
- Published in:
- BMC Infectious Diseases, 2024, v. 24, p. 1, doi. 10.1186/s12879-024-09321-0
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- Article
Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 3, p. 267, doi. 10.1093/labmed/lmad075
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- Article
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 139, doi. 10.1111/cge.14314
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- Article
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.
- Published in:
- Biomarker Insights, 2023, p. 1, doi. 10.1177/11772719231178618
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- Article
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01412-8
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- Article
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.
- Published in:
- Biomarker Insights, 2023, v. 18, p. 1, doi. 10.1177/11772719231178618
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- Publication type:
- Article
Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center.
- Published in:
- Wisconsin Medical Journal, 2022, v. 121, n. 3, p. 235
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- Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2557, doi. 10.1002/ajmg.a.38258
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- Article
8q21.11 microdeletion in two patients with syndromic peters anomaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2471, doi. 10.1002/ajmg.a.37840
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- Article
Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 490, doi. 10.1002/mgg3.159
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- Article
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 154, doi. 10.1093/hmg/ddu426
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- Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80
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- Article