Found: 22
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MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 17, p. 9686, doi. 10.1093/nar/gkab726
- By:
- Publication type:
- Article
NRG1 fusions in breast cancer.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A coagulation defect arising from heterozygous premature termination of tissue factor.
- Published in:
- 2020
- By:
- Publication type:
- journal article
mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1901-2
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- Publication type:
- Article
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 9, doi. 10.1002/jmd2.12030
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- Publication type:
- Article
PIGO deficiency: palmoplantar keratoderma and novel mutations.
- Published in:
- 2017
- By:
- Publication type:
- case study
ontologyX: a suite of R packages for working with ontological data.
- Published in:
- Bioinformatics, 2017, v. 33, n. 7, p. 1104, doi. 10.1093/bioinformatics/btw763
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- Publication type:
- Article
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 328, p. 1, doi. 10.1126/scitranslmed.aad7666
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- Publication type:
- Article
Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg<sup>2+</sup> homeostasis and cytoskeletal architecture.
- Published in:
- Nature Communications, 2016, v. 7, n. 3, p. 11097, doi. 10.1038/ncomms11097
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- Publication type:
- Article
A comparative study of RNA-seq analysis strategies.
- Published in:
- Briefings in Bioinformatics, 2015, v. 16, n. 6, p. 932, doi. 10.1093/bib/bbv007
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- Publication type:
- Article
A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia.
- Published in:
- 2015
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- Publication type:
- journal article
Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 1, doi. 10.1038/ncomms8776
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- Publication type:
- Article
Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7776, doi. 10.1038/ncomms8776
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- Publication type:
- Article
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0151-5
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- Publication type:
- Article
Hybrid Mice Reveal Parent-of-Origin and Cis- and Trans-Regulatory Effects in the Retina.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109382
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- Publication type:
- Article
The South Asian Genome.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0102645
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- Publication type:
- Article
Flexible analysis of RNA-seq data using mixed effects models.
- Published in:
- Bioinformatics, 2014, v. 30, n. 2, p. 180, doi. 10.1093/bioinformatics/btt624
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- Publication type:
- Article
Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads.
- Published in:
- Genome Biology, 2011, v. 12, n. 2, p. 1, doi. 10.1186/gb-2011-12-2-r13
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- Publication type:
- Article
Extensive Co-Operation between the Epstein-Barr Virus EBNA3 Proteins in the Manipulation of Host Gene Expression and Epigenetic Chromatin Modification.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013979
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- Publication type:
- Article
MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 4, p. 1413, doi. 10.1093/nar/gkq071
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- Publication type:
- Article
MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 1, p. e4, doi. 10.1093/nar/gkp853
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- Publication type:
- Article
BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips.
- Published in:
- BMC Bioinformatics, 2007, v. 8, p. 439, doi. 10.1186/1471-2105-8-439
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- Publication type:
- Article