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Region-specific expression of young small-scale duplications in the human central nervous system.
- Published in:
- BMC Ecology & Evolution, 2021, v. 21, p. 1, doi. 10.1186/s12862-021-01794-w
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- Article
Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.
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- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2021, v. 76, n. 5, p. 786, doi. 10.1093/gerona/glab023
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- Article
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01314-x
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- Article
Association of Self-reported COVID-19 Infection and SARS-CoV-2 Serology Test Results With Persistent Physical Symptoms Among French Adults During the COVID-19 Pandemic.
- Published in:
- 2022
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- Publication type:
- journal article
A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16549-w
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- Article
Publisher Correction: Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-11787-4
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- Publication type:
- Article
Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-11787-4
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- Publication type:
- Article
A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08663-6
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- Article
Publisher Correction: Impact of pre- and post-variant filtration strategies on imputation.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Exploring the Link Between Additive Heritability and Prediction Accuracy From a Ridge Regression Perspective.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.581594
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- Publication type:
- Article
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37110-x
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- Publication type:
- Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30443-z
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- Publication type:
- Article
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
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- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911861
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- Article
Deregulation of microRNA expression in monocytes and CD4<sup>+</sup> T lymphocytes from patients with axial spondyloarthritis.
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- Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1829-7
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- Publication type:
- Article
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
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- Publication type:
- Article
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4368, doi. 10.3390/ijms24054368
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- Article
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1115, doi. 10.3390/ijms23031115
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- Publication type:
- Article
Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design.
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- BMC Medical Research Methodology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12874-023-01915-7
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- Article
Identification of biological pathways specific to phases preceding rheumatoid arthritis development through gene expression profiling.
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- International Journal of Immunogenetics, 2021, v. 48, n. 3, p. 239, doi. 10.1111/iji.12528
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- Publication type:
- Article
Risk profile, quality of life and care of patients with moderate and advanced CKD: The French CKD-REIN Cohort Study.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 2, p. 277, doi. 10.1093/ndt/gfy058
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- Publication type:
- Article
Effective requesting method to detect fusion transcripts in chronic myelomonocytic leukemia RNA-seq.
- Published in:
- NAR Genomics & Bioinformatics, 2024, v. 6, n. 3, p. 1, doi. 10.1093/nargab/lqae117
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- Publication type:
- Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
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- Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
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- Publication type:
- Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
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- Article
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
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- Publication type:
- Article
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 2, p. 244, doi. 10.3390/life14020244
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- Publication type:
- Article
Genetics and Cognitive Vulnerability to Sleep Deprivation in Healthy Subjects: Interaction of ADORA2A, TNF-α and COMT Polymorphisms.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 10, p. 1110, doi. 10.3390/life11101110
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- Article
Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26174-2
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- Publication type:
- Article
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01091-1
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- Publication type:
- Article
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
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- Publication type:
- Article
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2257, doi. 10.1002/ajmg.a.61317
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- Publication type:
- Article
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2470, doi. 10.1002/ajmg.a.40357
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- Article
La propriété des données génétiques: De la donnéeà l'information.
- Published in:
- Médecine Sciences, 2018, v. 34, n. 12, p. 1100, doi. 10.1051/medsci/2018291
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- Article
Vers un consentement éclairé dynamique.
- Published in:
- Médecine Sciences, 2017, v. 33, n. 2, p. 188, doi. 10.1051/medsci/20173302015
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- Publication type:
- Article
Comprehensive evaluation of methods to isolate, quantify, and characterize circulating cell-free DNA from small volumes of plasma.
- Published in:
- Analytical & Bioanalytical Chemistry, 2015, v. 407, n. 22, p. 6873, doi. 10.1007/s00216-015-8846-4
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- Publication type:
- Article
Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France.
- Published in:
- Infection, 2022, v. 50, n. 1, p. 257, doi. 10.1007/s15010-021-01731-5
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- Publication type:
- Article
PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data.
- Published in:
- Bioinformatics, 2022, v. 38, n. 4, p. 900, doi. 10.1093/bioinformatics/btab786
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- Publication type:
- Article
La piste génétique.
- Published in:
- Defis CEA, 2020, n. 240, p. 19
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- Publication type:
- Article
Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children.
- Published in:
- Scientific Reports, 2017, p. 46311, doi. 10.1038/srep46311
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- Publication type:
- Article
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0
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- Publication type:
- Article
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127903
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- Publication type:
- Article
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort).
- Published in:
- 2020
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- Publication type:
- journal article
Accurate CpG and non-CpG cytosine methylation analysis by high-throughput locus-specific pyrosequencing in plants.
- Published in:
- Plant Molecular Biology, 2015, v. 88, n. 4-5, p. 471, doi. 10.1007/s11103-015-0336-8
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- Publication type:
- Article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
- Published in:
- 2018
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- Publication type:
- journal article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
- Published in:
- 2017
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- Publication type:
- journal article
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain.
- Published in:
- PLoS Pathogens, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.ppat.1010375
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- Publication type:
- Article
Long-lasting Symptoms After an Acute COVID-19 Infection and Factors Associated With Their Resolution.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 11, p. e2240985, doi. 10.1001/jamanetworkopen.2022.40985
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- Publication type:
- Article
First genome-wide association study of non-severe malaria in two birth cohorts in Benin.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1341, doi. 10.1007/s00439-019-02079-5
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- Publication type:
- Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
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- Publication type:
- Article