Found: 65
Select item for more details and to access through your institution.
Hexosylceramides and Glycerophosphatidylcholine GPC(36:1) Increase in Multi-Organ Dysfunction Syndrome Patients with Pediatric Intensive Care Unit Admission over 8-Day Hospitalization.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 339, doi. 10.3390/jpm11050339
- By:
- Publication type:
- Article
Differential gene expression of leaflet tissue in chronic ovine functional tricuspid regurgitation.
- Published in:
- European Journal of Cardio-Thoracic Surgery, 2024, v. 65, n. 6, p. 1, doi. 10.1093/ejcts/ezae218
- By:
- Publication type:
- Article
P3‐143: UTILITY OF GENOMIC SEQUENCING IN CASES OF EARLY‐ONSET AND FAMILIAL DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P986, doi. 10.1016/j.jalz.2019.06.3171
- By:
- Publication type:
- Article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
- By:
- Publication type:
- Article
Neuronatin is a modifier of estrogen receptor-positive breast cancer incidence and outcome.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 177, n. 1, p. 77, doi. 10.1007/s10549-019-05307-8
- By:
- Publication type:
- Article
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
- Published in:
- Human Genetics, 2021, v. 140, n. 3, p. 423, doi. 10.1007/s00439-020-02211-w
- By:
- Publication type:
- Article
Perinatal Manifestations of DARS2 -Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211019173
- By:
- Publication type:
- Article
Perinatal Manifestations of DARS2 -Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211019173
- By:
- Publication type:
- Article
Combined Plasma and Urinary Metabolomics Uncover Metabolic Perturbations Associated with Severe Respiratory Syncytial Viral Infection and Future Development of Asthma in Infant Patients.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020178
- By:
- Publication type:
- Article
CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.790041
- By:
- Publication type:
- Article
Transcriptional analysis of the multiple Sry genes and developmental program at the onset of testis differentiation in the rat.
- Published in:
- Biology of Sex Differences, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13293-020-00305-8
- By:
- Publication type:
- Article
Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63811
- By:
- Publication type:
- Article
N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 556, doi. 10.1002/ajmg.a.62554
- By:
- Publication type:
- Article
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3485, doi. 10.1002/ajmg.a.62473
- By:
- Publication type:
- Article
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1217, doi. 10.1002/ajmg.a.61504
- By:
- Publication type:
- Article
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon‐like autosomal recessive syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 668, doi. 10.1002/ajmg.a.61070
- By:
- Publication type:
- Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2557, doi. 10.1002/ajmg.a.38258
- By:
- Publication type:
- Article
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
- Published in:
- Journal of Molecular Modeling, 2017, v. 23, n. 3, p. 1, doi. 10.1007/s00894-017-3258-3
- By:
- Publication type:
- Article
A method for in silico identification of SNAIL/SLUG DNA binding potentials to the E-box sequence using molecular dynamics and evolutionary conserved amino acids.
- Published in:
- Journal of Molecular Modeling, 2013, v. 19, n. 9, p. 3463, doi. 10.1007/s00894-013-1876-y
- By:
- Publication type:
- Article
Methylation specific targeting of a chromatin remodeling complex from sponges to humans.
- Published in:
- Scientific Reports, 2017, p. 40674, doi. 10.1038/srep40674
- By:
- Publication type:
- Article
Discovery of the Elusive Leptin in Birds: Identification of Several ‘Missing Links’ in the Evolution of Leptin and Its Receptor.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092751
- By:
- Publication type:
- Article
Differential Mechanisms of Activation of the Ang Peptide Receptors AT1, AT2, and MAS: Using <i>In Silico</i> Techniques to Differentiate the Three Receptors.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065307
- By:
- Publication type:
- Article
Introduction to Personalized Medicine in Pediatrics.
- Published in:
- 2022
- By:
- Publication type:
- journal article
PEA15 loss of function and defective cerebral development in the domestic cat.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1008671
- By:
- Publication type:
- Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
- Published in:
- Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
- By:
- Publication type:
- Article
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.67097
- By:
- Publication type:
- Article
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 257, doi. 10.3390/biom13020257
- By:
- Publication type:
- Article
Using molecular dynamics simulations to show differences of movement over time in the CCR5 variants of genetically edited children.
- Published in:
- Bios, 2023, v. 94, n. 2, p. 49, doi. 10.1893/BIOS-D-20-00027
- By:
- Publication type:
- Article
TWO VARIANTS OF SLC6A1 ON AMINO ACID 451 (D451E AND D451G) ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY.
- Published in:
- Journal of the Alabama Academy of Science, 2020, v. 91, n. 2, p. 89
- By:
- Publication type:
- Article
MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism.
- Published in:
- Clinical Science, 2014, v. 126, n. 10, p. 727, doi. 10.1042/CS20130385
- By:
- Publication type:
- Article
Targeting ATP12A, α Nongastric Proton Pump α Subunit, for Idiopathic Pulmonary Fibrosis Treatment.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2023, v. 68, n. 6, p. 638, doi. 10.1165/rcmb.2022-0264OC
- By:
- Publication type:
- Article
Amino acid function and docking site prediction through combining disease variants, structure alignments, sequence alignments, and molecular dynamics: a study of the HMG domain.
- Published in:
- BMC Bioinformatics, 2012, v. 13, n. Suppl 2, p. 1, doi. 10.1186/1471-2105-13-S2-S3
- By:
- Publication type:
- Article
SARS-CoV-2 Genotyping Highlights the Challenges in Spike Protein Drift Independent of Other Essential Proteins.
- Published in:
- Microorganisms, 2024, v. 12, n. 9, p. 1863, doi. 10.3390/microorganisms12091863
- By:
- Publication type:
- Article
Kit Ligand and Kit receptor tyrosine kinase sustain synaptic inhibition of Purkinje cells.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.89792
- By:
- Publication type:
- Article
Understanding patient‐level immune response to COVID‐19 can inform treatment options.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4198
- By:
- Publication type:
- Article
Building a Distributed Research Network for Undergraduate Opportunities in Molecular Biochemistry.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4308
- By:
- Publication type:
- Article
Renal Biomarker Evaluation using Data Integration in the Age of Precision Medicine.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4265
- By:
- Publication type:
- Article
Profiling systemic physiology through blood‐based multidimensional RNAseq.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.03868
- By:
- Publication type:
- Article
Advanced Sequencing of Kidney Tubule Hypoxia Regulated Epithelial‐to‐Mesenchymal Transition.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.03755
- By:
- Publication type:
- Article
Loss of Health Promoting Bacteria in the Gastrointestinal Microbiome of PICU Infants with Bronchiolitis: A Single-Center Feasibility Study.
- Published in:
- Children, 2022, v. 9, n. 1, p. 114, doi. 10.3390/children9010114
- By:
- Publication type:
- Article
The Feasibility of Studying Metabolites in PICU Multi-Organ Dysfunction Syndrome Patients over an 8-Day Course Using an Untargeted Approach.
- Published in:
- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020151
- By:
- Publication type:
- Article
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.
- Published in:
- Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029
- By:
- Publication type:
- Article
High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.694243
- By:
- Publication type:
- Article
Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto–Shinawi Syndrome.
- Published in:
- Biology (2079-7737), 2023, v. 12, n. 4, p. 589, doi. 10.3390/biology12040589
- By:
- Publication type:
- Article
The phenotypic impact of the male-specific region of chromosome-Y in inbred mating: the role of genetic variants and gene duplications in multiple inbred rat strains.
- Published in:
- Biology of Sex Differences, 2016, v. 7, p. 1, doi. 10.1186/s13293-016-0064-z
- By:
- Publication type:
- Article
Integrated RNA Sequencing Reveals Epigenetic Impacts of Diesel Particulate Matter Exposure in Human Cerebral Organoids.
- Published in:
- Developmental Neuroscience, 2020, v. 42, n. 5-6, p. 195, doi. 10.1159/000513536
- By:
- Publication type:
- Article
A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.573409
- By:
- Publication type:
- Article
Environmental Epigenetics of Diesel Particulate Matter Toxicogenomics.
- Published in:
- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 20, p. 7386, doi. 10.3390/ijerph17207386
- By:
- Publication type:
- Article
WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Differential Transcriptomic Signatures of Small Airway Cell Cultures Derived from IPF and COVID-19-Induced Exacerbation of Interstitial Lung Disease.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 20, p. 2501, doi. 10.3390/cells12202501
- By:
- Publication type:
- Article