Found: 22
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Are we prepared to deliver gene‐targeted therapies for rare diseases?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 1, p. 7, doi. 10.1002/ajmg.c.32029
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- Publication type:
- Article
Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2022, v. 189, n. 1/2, p. 37, doi. 10.1002/ajmg.b.32882
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- Publication type:
- Article
Structured reviews for data and knowledge-driven research.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2020, v. 2020, p. 1, doi. 10.1093/database/baaa015
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- Publication type:
- Article
An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation.
- Published in:
- Advanced Therapeutics, 2022, v. 5, n. 11, p. 1, doi. 10.1002/adtp.202200009
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- Article
Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.600439
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- Publication type:
- Article
A graph-based algorithm for RNA-seq data normalization.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227760
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- Publication type:
- Article
A comprehensive approach to identifying repurposed drugs to treat <italic>SCN8A</italic> epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 4, p. 802, doi. 10.1111/epi.14037
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- Publication type:
- Article
Cardioinformatics: the nexus of bioinformatics and precision cardiology.
- Published in:
- Briefings in Bioinformatics, 2020, v. 21, n. 6, p. 2031, doi. 10.1093/bib/bbz119
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- Publication type:
- Article
Medical and psychosocial outcomes of state‐funded population genomic screening.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 434, doi. 10.1111/cge.14394
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- Publication type:
- Article
Abstract allocation as a unified approach to polyvariance in control-flow analyses.
- Published in:
- Journal of Functional Programming, 2018, v. 28, p. N.PAG, doi. 10.1017/S0956796818000138
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- Publication type:
- Article
Deletion: The curse of the red-black tree.
- Published in:
- Journal of Functional Programming, 2014, v. 24, n. 4, p. 423, doi. 10.1017/S0956796814000227
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- Publication type:
- Article
Pushdown flow analysis with abstract garbage collection.
- Published in:
- Journal of Functional Programming, 2014, v. 24, n. 2/3, p. 218, doi. 10.1017/S0956796814000100
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- Publication type:
- Article
Systematic abstraction of abstract machines.
- Published in:
- Journal of Functional Programming, 2012, v. 22, n. 4/5, p. 705, doi. 10.1017/S0956796812000238
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- Publication type:
- Article
Exploiting reachability and cardinality in higher-order flow analysis.
- Published in:
- Journal of Functional Programming, 2008, v. 18, n. 5/6, p. 821, doi. 10.1017/S0956796808006941
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- Publication type:
- Article
COVID-19 bacteremic co-infection is a major risk factor for mortality, ICU admission, and mechanical ventilation.
- Published in:
- Critical Care, 2023, v. 27, n. 1, p. 1, doi. 10.1186/s13054-023-04312-0
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- Publication type:
- Article
Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial.
- Published in:
- 2021
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- Publication type:
- journal article
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
- Published in:
- 2021
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- Publication type:
- journal article
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1055, doi. 10.1093/hmg/ddy026
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- Publication type:
- Article
cdev: a ground-truth based measure to evaluate RNA-seq normalization performance.
- Published in:
- PeerJ, 2021, p. 1, doi. 10.7717/peerj.12233
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- Publication type:
- Article
What happens when N = 1 and you want plus 1?
- Published in:
- 2017
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- Publication type:
- journal article
Participant-Driven Matchmaking in the Genomic Era.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 965, doi. 10.1002/humu.22852
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- Publication type:
- Article
anexVis: visual analytics framework for analysis of RNA expression.
- Published in:
- Bioinformatics, 2018, v. 34, n. 14, p. 2510, doi. 10.1093/bioinformatics/bty122
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- Publication type:
- Article