Found: 25
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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01166-7
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- Article
Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2290, doi. 10.1002/ajmg.a.63318
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- Article
Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 612, doi. 10.1002/ajmg.a.63056
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- Article
Many newborns in level IV NICUs are eligible for rapid DNA sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 280, doi. 10.1002/ajmg.a.61011
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- Article
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1979, doi. 10.1002/ajmg.a.38259
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- Article
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3137, doi. 10.1002/ajmg.a.35664
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- Article
Isolation of rare recombinants without using selectable markers for one-step seamless BAC mutagenesis.
- Published in:
- Nature Methods, 2014, v. 11, n. 9, p. 966, doi. 10.1038/nmeth.3030
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- Article
A One-Step Miniprep for the Isolation of Plasmid DNA and Lambda Phage Particles.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023457
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- Article
Hofmeister series salts enhance purification of plasmid DNA by non-ionic detergents.
- Published in:
- Biotechnology & Bioengineering, 2011, v. 108, n. 8, p. 1872, doi. 10.1002/bit.23116
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- Article
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
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- Birth Defects Research, 2018, v. 110, n. 7, p. 610, doi. 10.1002/bdr2.1223
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- Article
Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah.
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- Birth Defects Research, 2017, v. 109, n. 18, p. 1451, doi. 10.1002/bdr2.1106
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- Article
salutogenic urban design framework: the case of UK local high streets and older people.
- Published in:
- Health Promotion International, 2022, v. 37, n. 5, p. 1, doi. 10.1093/heapro/daac102
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- Article
DNA gap repair in Escherichia coli for multiplex site‐directed mutagenesis.
- Published in:
- FASEB Journal, 2020, v. 34, n. 5, p. 6351, doi. 10.1096/fj.201902260R
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- Article
Live‐cell PCR and one‐step purification streamline DNA engineering.
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- FASEB Journal, 2020, v. 34, n. 3, p. 3448, doi. 10.1096/fj.201902261R
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- Article
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
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- Clinical Chemistry, 2024, v. 70, n. 4, p. 577, doi. 10.1093/clinchem/hvae025
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- Article
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
- Published in:
- Children, 2023, v. 10, n. 6, p. 991, doi. 10.3390/children10060991
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- Article
Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality.
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- Birth Defects Research, 2020, v. 112, n. 18, p. 1475, doi. 10.1002/bdr2.1770
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- Article
Loop blow-up inflation.
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- Journal of High Energy Physics, 2024, v. 2024, n. 7, p. 1, doi. 10.1007/JHEP07(2024)289
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- Article
14-3-3epsilon controls multiple developmental processes in the mouse heart.
- Published in:
- Developmental Dynamics, 2016, v. 245, n. 11, p. 1107, doi. 10.1002/dvdy.24440
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- Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
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- Article
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
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- JAMA Pediatrics, 2021, v. 175, n. 12, p. 1218, doi. 10.1001/jamapediatrics.2021.3496
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- Article
Thermal Energy Storage in Energy Communities: A Perspective Overview through a Bibliometric Analysis.
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- Sustainability (2071-1050), 2024, v. 16, n. 14, p. 5895, doi. 10.3390/su16145895
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- Article
Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 22, doi. 10.3390/ijns8010022
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- Article
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867337
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- Article
Health data space nodes for privacy-preserving linkage of medical data to support collaborative secondary analyses.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1301660
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- Article