Works matching IS 14739542 AND DT 2017 AND VI 11
Results: 34
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0130-6
- Publication type:
- Article
Overexpressed HSF1 cancer signature genes cluster in human chromosome 8q.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0131-5
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- Article
Early-life adversity and long-term neurobehavioral outcomes: epigenome as a bridge?
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0129-z
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- Article
Yale school of public health symposium on lifetime exposures and human health: the exposome; summary and future reflections.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0128-0
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- Article
Ethical frameworks for obtaining informed consent in tumour profiling: an evidencebased case for Singapore.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0127-1
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- Article
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0126-2
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- Article
The peptidylglycine-α-amidating monooxygenase (PAM) gene rs13175330 A>G polymorphism is associated with hypertension in a Korean population.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0125-3
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- Article
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0124-4
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- Publication type:
- Article
Identification of functional single nucleotide polymorphisms in the branchpoint site.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0122-6
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- Article
Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0121-7
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- Article
Identification of a novel genetic locus underlying tremor and dystonia.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0123-5
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- Article
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0115-5
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- Article
Evaluating somatic tumor mutation detection without matched normal samples.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0118-2
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- Publication type:
- Article
Distinct transcriptional and metabolic profiles associated with empathy in Buddhist priests: a pilot study.
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- Human Genomics, 2017, v. 11, n. 1, p. 1, doi. 10.1186/s40246-017-0117-3
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- Article
Falling giants and the rise of gene editing: ethics, private interests and the public good.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0116-4
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- Article
Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0120-8
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- Article
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0114-6
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- Publication type:
- Article
Long non-coding RNAs as novel players in β cell function and type 1 diabetes.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0113-7
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- Article
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0111-9
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- Publication type:
- Article
Inferring clonal structure in HTLV-1-infected individuals: towards bridging the gap between analysis and visualization.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0112-8
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- Publication type:
- Article
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0110-x
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- Article
The NF7 somatic mutational landscape in sporadic human cancers.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0109-3
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- Publication type:
- Article
Genetic variation in neurodegenerative diseases and its accessibility in the model organism Caenorhabditis elegans.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0108-4
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- Article
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0107-5
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Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0104-8
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- Publication type:
- Article
Genome-wide DNA methylation analysis reveals hypomethylation in the low-CpG promoter regions in lymphoblastoid cell lines.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0106-6
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- Publication type:
- Article
Identification of novel genes associated with HIV-1 latency by analysis of histone modifications.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0105-7
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- Publication type:
- Article
In silico prioritization and further functional characterization of SPINK1 intronic variants.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0103-9
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- Publication type:
- Article
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0102-x
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- Article
Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0101-y
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The Israeli National Genetic database: a 10-year experience.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0100-z
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Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0099-1
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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0097-3
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- Publication type:
- Article
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
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- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0098-2
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