Works matching IS 14739542 AND DT 2018 AND VI 12
Results: 52
Identification of drug repurposing candidates based on a miRNA-mediated drug and pathway network for cardiac hypertrophy and acute myocardial infarction.
- Published in:
- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0184-0
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- Publication type:
- Article
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0183-1
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- Article
Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0182-2
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- Publication type:
- Article
Bayesian variable selection for parametric survival model with applications to cancer omics data.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0179-x
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- Publication type:
- Article
Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0180-4
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- Publication type:
- Article
Link between short tandem repeats and translation initiation site selection.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0181-3
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- Article
Identification of gross deletions in FBN1 gene by MLPA.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0178-y
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- Article
Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0177-z
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- Publication type:
- Article
Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0176-0
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- Publication type:
- Article
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0175-1
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- Publication type:
- Article
Secondary findings in 421 whole exome-sequenced Chinese children.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0174-2
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- Publication type:
- Article
Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0173-3
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- Publication type:
- Article
Forward and reverse mutations in stages of cancer development.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0170-6
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- Publication type:
- Article
The impact of genome-wide association studies on biomedical research publications.
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- 2018
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- Publication type:
- Letter
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0171-5
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- Publication type:
- Article
Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0169-z
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- Publication type:
- Article
The tale of histone modifications and its role in multiple sclerosis.
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- Human Genomics, 2018, v. 12, n. 1, p. 1, doi. 10.1186/s40246-018-0163-5
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- Publication type:
- Article
A novel <italic>LRAT</italic> mutation affecting splicing in a family with early onset retinitis pigmentosa.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0165-3
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- Publication type:
- Article
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0167-1
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- Publication type:
- Article
Abundance of clinical variants in exons included in multiple transcripts.
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- 2018
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- Publication type:
- Letter
Caution needs to be taken when assigning transcription start sites to ends of protein-coding genes: a rebuttal.
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- 2018
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- Publication type:
- Letter
A new bioinformatics tool to help assess the significance of <italic>BRCA1</italic> variants.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0168-0
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- Publication type:
- Article
Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0161-7
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- Publication type:
- Article
Associations between hypertension and the peroxisome proliferator-activated receptor-δ (<italic>PPARD</italic>) gene rs7770619 C>T polymorphism in a Korean population.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0162-6
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- Publication type:
- Article
Oxidative stress-induced chromosome breaks within the <italic>ABL</italic> gene: a model for chromosome rearrangement in nasopharyngeal carcinoma.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0160-8
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- Publication type:
- Article
Integrating rare genetic variants into pharmacogenetic drug response predictions.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0157-3
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- Publication type:
- Article
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0158-2
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- Publication type:
- Article
Nonparametric approaches for population structure analysis.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0156-4
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- Publication type:
- Article
Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0154-6
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- Article
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0155-5
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- Article
Tensions in ethics and policy created by National Precision Medicine Programs.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0151-9
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- Article
Public attitudes in Japan toward participation in whole genome sequencing studies.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0153-7
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- Publication type:
- Article
Correlation of gene expression and associated mutation profiles of <italic>APOBEC3A</italic>, <italic>APOBEC3B</italic>, <italic>REV1</italic>, <italic>UNG</italic>, and <italic>FHIT</italic> with chemosensitivity of cancer cell lines to drug treatment.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0150-x
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- Publication type:
- Article
The development of large-scale de-identified biomedical databases in the age of genomics—principles and challenges.
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- Human Genomics, 2018, v. 12, n. 1, p. 1, doi. 10.1186/s40246-018-0147-5
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- Article
Molecular characterization of exonic rearrangements and frame shifts in the <italic>dystrophin</italic> gene in Duchenne muscular dystrophy patients in a Saudi community.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0152-8
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- Publication type:
- Article
Genome-scale portrait and evolutionary significance of human-specific core promoter tri- and tetranucleotide short tandem repeats.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0149-3
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- Publication type:
- Article
Large-scale discovery of previously undetected microRNAs specific to human liver.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0148-4
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- Publication type:
- Article
Transcription start sites at the end of protein-coding genes.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0146-6
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- Publication type:
- Article
Abstracts from the Human Genome Meeting 2018.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0138-6
- Publication type:
- Article
APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0139-5
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- Publication type:
- Article
The genetic structure of the Belgian population.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0136-8
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- Publication type:
- Article
2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0145-7
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- Publication type:
- Article
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0141-y
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- Publication type:
- Article
Yale School of Public Health Symposium on tissue imaging mass spectrometry: illuminating phenotypic heterogeneity and drug disposition at the molecular level.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0142-x
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- Publication type:
- Article
Insights about genome function from spatial organization of the genome.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0140-z
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- Publication type:
- Article
Including all voices in international data-sharing governance.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0143-9
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- Publication type:
- Article
Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0144-8
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- Publication type:
- Article
Meeting report of the 2017 KidGen Renal Genetics Symposium.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0137-7
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- Publication type:
- Article
Beyond genomics: understanding exposotypes through metabolomics.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0134-x
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- Publication type:
- Article
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
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- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0135-9
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- Publication type:
- Article