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Why is My Zero Energy Home Not a Zero Carbon Home?
- Published in:
- ASHRAE Journal, 2024, v. 66, n. 7, p. 20
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- Publication type:
- Article
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42202-1
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- Publication type:
- Article
Simulating Radiative Heat Transfer in Multi‐Scattering Irregular Surfaces: Application to Snow and Ice Morphologies on Europa.
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- Journal of Geophysical Research. Planets, 2023, v. 128, n. 11, p. 1, doi. 10.1029/2023JE007800
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- Publication type:
- Article
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.
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- PLoS Genetics, 2023, v. 19, n. 10, p. 1, doi. 10.1371/journal.pgen.1010952
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- Publication type:
- Article
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
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- Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-39539-6
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- Publication type:
- Article
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.
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- Annals of Neurology, 2023, v. 93, n. 4, p. 752, doi. 10.1002/ana.26581
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- Publication type:
- Article
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2097
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- Publication type:
- Article
Risk Variants in the Exomes of Children With Critical Illness.
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- JAMA Network Open, 2022, v. 5, n. 10, p. e2239122, doi. 10.1001/jamanetworkopen.2022.39122
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- Publication type:
- Article
Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2022, v. 206, n. 7, p. 903, doi. 10.1164/rccm.202203-0622LE
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- Publication type:
- Article
Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31752-z
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- Publication type:
- Article
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
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- Publication type:
- Article
Rare and Common Variants in Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
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- American Journal of Respiratory & Critical Care Medicine, 2022, v. 206, n. 1, p. 56, doi. 10.1164/rccm.202110-2439OC
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- Publication type:
- Article
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1563, doi. 10.1111/epi.17228
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- Publication type:
- Article
A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population.
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- PLoS ONE, 2022, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0261165
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- Publication type:
- Article
Genomic analysis of "microphenotypes" in epilepsy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 138, doi. 10.1002/ajmg.a.62505
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- Publication type:
- Article
Focused goodness of fit tests for gene set analyses.
- Published in:
- Briefings in Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1093/bib/bbab472
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- Publication type:
- Article
Genetic testing in individuals with cerebral palsy.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1448, doi. 10.1111/dmcn.14948
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- Publication type:
- Article
Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply.
- Published in:
- 2021
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- Publication type:
- letter
Precision genetic cellular models identify therapies protective against ER stress.
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- Cell Death & Disease, 2021, v. 12, n. 8, p. 1, doi. 10.1038/s41419-021-04045-4
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- Publication type:
- Article
Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial.
- Published in:
- 2021
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- Publication type:
- journal article
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab128
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- Publication type:
- Article
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.
- Published in:
- 2021
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- Publication type:
- journal article
Diverse genetic causes of polymicrogyria with epilepsy.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 4, p. 973, doi. 10.1111/epi.16854
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- Publication type:
- Article
ATAV: a comprehensive platform for population-scale genomic analyses.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04071-1
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- Publication type:
- Article
A Transcriptome‐Based Drug Discovery Paradigm for Neurodevelopmental Disorders.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 199, doi. 10.1002/ana.25950
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- Publication type:
- Article
Genetic associations with brain amyloidosis: Genetics/genetic factors of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042191
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- Publication type:
- Article
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.01040
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- Publication type:
- Article
The Evolution of a Spacecraft‐Generated Lunar Exosphere.
- Published in:
- Journal of Geophysical Research. Planets, 2020, v. 125, n. 8, p. 1, doi. 10.1029/2020JE006464
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- Publication type:
- Article
Incorporating external information to improve sparse signal detection in rare‐variant gene‐set‐based analyses.
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- Genetic Epidemiology, 2020, v. 44, n. 4, p. 330, doi. 10.1002/gepi.22283
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- Publication type:
- Article
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1008
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- Publication type:
- Article
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
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- 2019
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- Publication type:
- journal article
Precision Medicine in Internal Medicine.
- Published in:
- 2019
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- Publication type:
- journal article
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 797, doi. 10.1111/epi.14698
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- Publication type:
- Article
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
- Published in:
- 2019
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- Publication type:
- journal article
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.
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- PLoS Computational Biology, 2018, v. 14, n. 10, p. 1, doi. 10.1371/journal.pcbi.1006506
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- Publication type:
- Article
Women, Food Exchange, and Governance in Early Modern England.
- Published in:
- 2018
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- Publication type:
- Book Review
Taste as Experience: The Philosophy and Aesthetics of Food.
- Published in:
- 2018
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- Publication type:
- Book Review
P1‐170: WHOLE‐EXOME SEQUENCING IN 20,197 INDIVIDUALS IDENTIFIES ULTRA‐RARE SORL1 LOSS‐OF‐FUNCTION VARIANTS IN LATE‐ONSET ALZHEIMER'S DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P344, doi. 10.1016/j.jalz.2018.06.174
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- Publication type:
- Article
Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 7, p. 832, doi. 10.1002/acn3.582
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- Publication type:
- Article
Recipes for Thought: Knowledge and Taste in the Early Modern English Kitchen.
- Published in:
- 2018
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- Publication type:
- Book Review
Association of CYP2B6 SingleNucleotide Polymorphisms Altering Efavirenz Metabolism With Hepatitis C Virus (HCV) Treatment Relapse Among Human Immunodeficiency Virus/HCV-Coinfected African Americans Receiving Ledipasvir/Sofosbuvir in the ION-4 Trial.
- Published in:
- Clinical Infectious Diseases, 2018, v. 66, n. 12, p. 1953, doi. 10.1093/cid/cix1051
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- Publication type:
- Article
A comprehensive approach to identifying repurposed drugs to treat <italic>SCN8A</italic> epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 4, p. 802, doi. 10.1111/epi.14037
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- Publication type:
- Article
Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3158, doi. 10.1002/ajmg.a.38460
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- Publication type:
- Article
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007104
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- Publication type:
- Article
Food and Health in Early Modern Europe: Diet, Medicine and Society, 1450-1800.
- Published in:
- 2017
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- Publication type:
- Book Review
Eats Well with Others: Culinary Skepticism in As You Like It and Montaigne's "Of Experience".
- Published in:
- 2017
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- Publication type:
- Literary Criticism
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181604
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- Publication type:
- Article
Annotating pathogenic non-coding variants in genic regions.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00141-2
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- Publication type:
- Article
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
- Published in:
- 2017
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- Publication type:
- journal article