Works matching IS 14739542 AND DT 2020 AND VI 14 AND IP 1
Results: 45
The haplotypes of various TNF related genes associated with scleritis in Chinese Han.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00296-y
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- Publication type:
- Article
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00294-0
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- Publication type:
- Article
COVID-19 update: the first 6 months of the pandemic.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00298-w
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- Article
A rational approach to COVID-19.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00300-5
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- Publication type:
- Article
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00295-z
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- Publication type:
- Article
Microarray analysis identification of key pathways and interaction network of differential gene expressions during osteogenic differentiation.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00293-1
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- Publication type:
- Article
Correction to: The social, economic, political, and genetic value of race and ethnicity in 2020.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00291-3
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- Publication type:
- Article
Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00290-4
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- Publication type:
- Article
Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00283-3
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- Publication type:
- Article
A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00289-x
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- Publication type:
- Article
The social, economic, political, and genetic value of race and ethnicity in 2020.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00284-2
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- Publication type:
- Article
Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00288-y
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- Publication type:
- Article
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00280-6
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- Publication type:
- Article
Aberration of the modulatory functions of intronic microRNA hsa-miR-933 on its host gene ATF2 results in type II diabetes mellitus and neurodegenerative disease development.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00285-1
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- Publication type:
- Article
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00286-0
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- Publication type:
- Article
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00281-5
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- Publication type:
- Article
Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00282-4
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- Publication type:
- Article
Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00287-z
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- Publication type:
- Article
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00279-z
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- Publication type:
- Article
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0
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- Publication type:
- Article
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00275-3
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- Publication type:
- Article
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00274-4
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- Publication type:
- Article
Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00276-2
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- Publication type:
- Article
Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease.
- Published in:
- 2020
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- Publication type:
- Editorial
Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00271-7
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- Publication type:
- Article
A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00270-8
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- Publication type:
- Article
Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00268-2
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- Publication type:
- Article
COVID-19 preclinical models: human angiotensin-converting enzyme 2 transgenic mice.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00272-6
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- Publication type:
- Article
Gene X environment: the cellular environment governs the transcriptional response to environmental chemicals.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00269-1
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- Publication type:
- Article
COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00267-3
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- Publication type:
- Article
An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00264-6
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- Publication type:
- Article
Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00266-4
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- Publication type:
- Article
Hydroxymethylation and tumors: can 5-hydroxymethylation be used as a marker for tumor diagnosis and treatment?
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00265-5
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- Publication type:
- Article
A novel method to predict essential proteins based on tensor and HITS algorithm.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00263-7
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- Publication type:
- Article
Reply to "Is the number of DNA repair genes associated with evolution rate and size of genomes?".
- Published in:
- 2020
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- Publication type:
- Letter
Is the number of DNA repair genes associated with evolution rate and size of genomes?
- Published in:
- 2020
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- Publication type:
- Letter
Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00257-5
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- Publication type:
- Article
Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00260-w
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- Publication type:
- Article
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00262-8
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- Publication type:
- Article
TRPM3_miR-204: a complex locus for eye development and disease.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00258-4
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- Publication type:
- Article
Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in preeclampsia.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-0256-9
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- Publication type:
- Article
Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0254-y
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- Publication type:
- Article
Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0253-z
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- Publication type:
- Article
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0255-x
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- Publication type:
- Article