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A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Increased Asymmetry of Trunk, Pelvis, and Hip Motion during Gait in Ambulatory Children with Spina Bifida.
- Published in:
- Symmetry (20738994), 2021, v. 13, n. 9, p. 1595, doi. 10.3390/sym13091595
- By:
- Publication type:
- Article
Biomechanical Symmetry during Drop Jump Landing and Takeoff in Adolescent Athletes Following Recent Anterior Cruciate Ligament Reconstruction.
- Published in:
- Symmetry (20738994), 2021, v. 13, n. 4, p. 639, doi. 10.3390/sym13040639
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- Publication type:
- Article
Antigen delivery by filamentous bacteriophage fd displaying an anti-DEC-205 single-chain variable fragment confers adjuvanticity by triggering a TLR9-mediated immune response.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 7, p. 973, doi. 10.15252/emmm.201404525
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- Publication type:
- Article
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 4, p. 315, doi. 10.1034/j.1399-0004.1998.5440409.x
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- Publication type:
- Article
Transcriptional Regulation and Its Misregulation in Human Diseases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8640, doi. 10.3390/ijms24108640
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- Publication type:
- Article
Analysis of Stop Codons within Prokaryotic Protein-Coding Genes Suggests Frequent Readthrough Events.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1876, doi. 10.3390/ijms22041876
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- Publication type:
- Article
Transcriptional Regulation: Molecules, Involved Mechanisms, and Misregulation.
- Published in:
- 2019
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- Publication type:
- Editorial
PR/SET Domain Family and Cancer: Novel Insights from The Cancer Genome Atlas.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3250, doi. 10.3390/ijms19103250
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- Publication type:
- Article
Transcriptome Profiling in Human Diseases: New Advances and Perspectives.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1652, doi. 10.3390/ijms18081652
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- Publication type:
- Article
Pan-Cancer Mutational and Transcriptional Analysis of the Integrator Complex.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 936, doi. 10.3390/ijms18050936
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- Publication type:
- Article
Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 7, p. 1008, doi. 10.3390/ijms17071008
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- Publication type:
- Article
Alternative Splicing in Adhesion- and Motility-Related Genes in Breast Cancer.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 1, p. 121, doi. 10.3390/ijms17010121
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- Publication type:
- Article
Novel Transcription Factor Variants through RNA-Sequencing: The Importance of Being "Alternative".
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 1, p. 1755, doi. 10.3390/ijms16011755
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- Publication type:
- Article
E2 multimeric scaffold for vaccine formulation: immune response by intranasal delivery and transcriptome profile of E2-pulsed dendritic cells.
- Published in:
- BMC Microbiology, 2016, v. 16, p. 1, doi. 10.1186/s12866-016-0772-x
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- Publication type:
- Article
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 462, doi. 10.1038/78182
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- Publication type:
- Article
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
- Published in:
- 2006
- By:
- Publication type:
- journal article
Evidence of Bacteroides fragilis Protection from Bartonella henselae-Induced Damage.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049653
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- Publication type:
- Article
31 A clinical trial using exergaming with augmented reality to promote physical activity in children with Cerebral Palsy at Children's Hospital Los Angeles.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Genetic and epigenetic alterations of RB2/p130 tumor suppressor gene in human sporadic retinoblastoma: implications for pathogenesis and therapeutic approach.
- Published in:
- Oncogene, 2005, v. 24, n. 38, p. 5827, doi. 10.1038/sj.onc.1208630
- By:
- Publication type:
- Article
Integrated Network Pharmacology Approach for Drug Combination Discovery: A Multi-Cancer Case Study.
- Published in:
- Cancers, 2022, v. 14, n. 8, p. 2043, doi. 10.3390/cancers14082043
- By:
- Publication type:
- Article
RBPMetaDB: a comprehensive annotation of mouse RNA-Seq datasets with perturbations of RNA-binding proteins.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2018, v. 2018, p. 1, doi. 10.1093/database/bay054
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- Publication type:
- Article
SFMetaDB: a comprehensive annotation of mouse RNA splicing factor RNA-Seq datasets.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2017, v. 2017, n. 1, p. 1, doi. 10.1093/database/bax071
- By:
- Publication type:
- Article
AnaLysis of Expression on human chromosome 21, ALE-HSA21: a pilot integrated web resource.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau009
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- Publication type:
- Article
RNA-Seq and human complex diseases: recent accomplishments and future perspectives.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 134, doi. 10.1038/ejhg.2012.129
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- Publication type:
- Article
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 155, doi. 10.1038/sj.ejhg.5200942
- By:
- Publication type:
- Article
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390
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- Publication type:
- Article
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 687, doi. 10.1038/sj.ejhg.5200352
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- Publication type:
- Article
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 574, doi. 10.1038/sj.ejhg.5200332
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- Publication type:
- Article
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 283, doi. 10.1038/sj.ejhg.5200215
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- Publication type:
- Article
DDXIIL: a novel transcript family emerging from human subtelomeric regions.
- Published in:
- BMC Genomics, 2009, v. 10, p. 250, doi. 10.1186/1471-2164-10-250
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- Publication type:
- Article
Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 84, n. 3/4, p. 164, doi. 10.1159/000015247
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- Publication type:
- Article
Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21→q22.
- Published in:
- Cytogenetics & Cell Genetics, 1998, v. 83, n. 1/2, p. 46, doi. 10.1159/000015165
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- Publication type:
- Article
Impairment of circulating endothelial progenitors in Down syndrome.
- Published in:
- BMC Medical Genomics, 2010, v. 3, p. 40, doi. 10.1186/1755-8794-3-40
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- Publication type:
- Article
Heart failure: Pilot transcriptomic analysis of cardiac tissue by RNA-sequencing.
- Published in:
- Cardiology Journal, 2017, v. 24, n. 5, p. 539, doi. 10.5603/CJ.a2017.0052
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- Publication type:
- Article
Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?
- Published in:
- PPAR Research, 2015, v. 2015, p. 1, doi. 10.1155/2015/415149
- By:
- Publication type:
- Article
PPARG in Human Adipogenesis: Differential Contribution of Canonical Transcripts and Dominant Negative Isoforms.
- Published in:
- PPAR Research, 2014, p. 1, doi. 10.1155/2014/537865
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- Publication type:
- Article
PPARG: Gene Expression Regulation and Next-Generation Sequencing for Unsolved Issues.
- Published in:
- PPAR Research, 2010, p. 1, doi. 10.1155/2010/409168
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- Publication type:
- Article
Experimental colitis: decreased Octn2 and Atb0+ expression in rat colonocytes induces carnitine depletion that is reversible by carnitine-loaded liposomes.
- Published in:
- FASEB Journal, 2006, v. 20, n. 14, p. 2544, doi. 10.1096/fj.06-5950fje
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- Publication type:
- Article
Diabetic Retinopathy: Are lncRNAs New Molecular Players and Targets?
- Published in:
- Antioxidants, 2022, v. 11, n. 10, p. N.PAG, doi. 10.3390/antiox11102021
- By:
- Publication type:
- Article
Hepatic Insulin Resistance in Hyperthyroid Rat Liver: Vitamin E Supplementation Highlights a Possible Role of ROS.
- Published in:
- Antioxidants, 2022, v. 11, n. 7, p. 1295, doi. 10.3390/antiox11071295
- By:
- Publication type:
- Article
Targeting metabolism by B-raf inhibitors and diclofenac restrains the viability of BRAF-mutated thyroid carcinomas with Hif-1α-mediated glycolytic phenotype.
- Published in:
- British Journal of Cancer, 2023, v. 129, n. 2, p. 249, doi. 10.1038/s41416-023-02282-2
- By:
- Publication type:
- Article
Mean Shift Cluster Recognition Method Implementation in the Nested Sampling Algorithm.
- Published in:
- Entropy, 2020, v. 22, n. 2, p. 185, doi. 10.3390/e22020185
- By:
- Publication type:
- Article
TNFα Mediates Inflammation-Induced Effects on PPARG Splicing in Adipose Tissue and Mesenchymal Precursor Cells.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 1, p. 42, doi. 10.3390/cells11010042
- By:
- Publication type:
- Article
In Vitro-Generated Hypertrophic-Like Adipocytes Displaying PPARG Isoforms Unbalance Recapitulate Adipocyte Dysfunctions In Vivo.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 5, p. 1284, doi. 10.3390/cells9051284
- By:
- Publication type:
- Article
Is PPARG the key gene in diabetic retinopathy?
- Published in:
- British Journal of Pharmacology, 2012, v. 165, n. 1, p. 1, doi. 10.1111/j.1476-5381.2011.01443.x
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- Publication type:
- Article
Multiple pathogenic and benigngenomic rearrangements occur at a 35 kb duplication involving the NEMOandLAGE2 genes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2557, doi. 10.1093/hmg/10.22.2557
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- Publication type:
- Article
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 3, p. 395, doi. 10.1093/hmg/9.3.395
- By:
- Publication type:
- Article
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 109, doi. 10.1002/humu.1160
- By:
- Publication type:
- Article
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 61, doi. 10.1093/hmg/8.1.61
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- Publication type:
- Article