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Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS).
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7629, doi. 10.3390/ijms22147629
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- Article
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 169, doi. 10.1002/ajmg.a.38004
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- Article
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.
- Published in:
- 2021
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- Publication type:
- Editorial
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01240-0
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- Publication type:
- Article
slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119696
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- Publication type:
- Article
<i>In Silico</i> Identification of New Putative Pathogenic Variants in the <i>Neu1</i> Sialidase Gene Affecting Enzyme Function and Subcellular Localization.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104229
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- Publication type:
- Article
New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044193
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- Publication type:
- Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
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- Publication type:
- Article
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.
- Published in:
- Human Genetics, 2016, v. 135, n. 5, p. 499, doi. 10.1007/s00439-016-1656-8
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- Publication type:
- Article
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
- Published in:
- Cancers, 2019, v. 11, n. 12, p. 1895, doi. 10.3390/cancers11121895
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- Publication type:
- Article
Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled trial (PANDORA trial).
- Published in:
- 2021
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- Publication type:
- journal article
Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80374-2
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- Publication type:
- Article
Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates.
- Published in:
- Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00402
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- Publication type:
- Article
Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells).
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172430
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- Publication type:
- Article
Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α.
- Published in:
- Biomedicines, 2021, v. 9, n. 6, p. 681, doi. 10.3390/biomedicines9060681
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- Publication type:
- Article
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 5, p. 2522, doi. 10.1093/nar/gkac130
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- Publication type:
- Article
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-5364-8
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- Publication type:
- Article
Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1203, doi. 10.1002/humu.23562
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- Publication type:
- Article
Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish.
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- Glycobiology, 2017, v. 27, n. 10, p. 938, doi. 10.1093/glycob/cwx068
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- Publication type:
- Article
Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.
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- Glycobiology, 2015, v. 25, n. 9, p. 992, doi. 10.1093/glycob/cwv034
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- Publication type:
- Article
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33924-8
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- Publication type:
- Article
Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50317-w
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- Publication type:
- Article
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 631, doi. 10.3390/genes10090631
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- Publication type:
- Article
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.
- Published in:
- Genes, 2018, v. 9, n. 2, p. 79, doi. 10.3390/genes9020079
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- Publication type:
- Article
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.
- Published in:
- International Journal of Molecular Medicine, 2016, v. 38, n. 5, p. 1338, doi. 10.3892/ijmm.2016.2742
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- Publication type:
- Article
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.
- Published in:
- Bioinformatics, 2018, v. 34, n. 17, p. 3038, doi. 10.1093/bioinformatics/bty303
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- Publication type:
- Article
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182778
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- Publication type:
- Article