Found: 11
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Requirements for 5′dRP/AP lyase activity in Ku.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 17, p. 11136, doi. 10.1093/nar/gku796
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- Publication type:
- Article
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 83, doi. 10.1002/ajmg.c.31887
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- Publication type:
- Article
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2176, doi. 10.1002/ajmg.a.37129
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- Publication type:
- Article
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0242182
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- Publication type:
- Article
The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4286, doi. 10.1038/ncomms5286
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- Publication type:
- Article
UV sensitive mutations in histone H3 in Saccharomyces cerevisiae that alter specific K79 methylation states genetically act through distinct DNA repair pathways.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 898, doi. 10.1002/mgg3.453
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- Publication type:
- Article
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 13, p. 1, doi. 10.1161/JAHA.123.030073
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- Publication type:
- Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 4, p. 318, doi. 10.1001/jama.2022.24836
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- Publication type:
- Article
A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.883073
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- Publication type:
- Article
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1009884
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- Publication type:
- Article