Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
Correction: Smek1 deficiency exacerbates experimental autoimmune encephalomyelitis by activating proinflammatory microglia and suppressing the IDO1-AhR pathwayJournal of neuroinflammation, 2023-07, Vol.20 (1), p.160-160, Article 160 [Peer Reviewed Journal]COPYRIGHT 2023 BioMed Central Ltd. ;2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2023 ;ISSN: 1742-2094 ;EISSN: 1742-2094 ;DOI: 10.1186/s12974-023-02834-6 ;PMID: 37407996Full text available |
|
2 |
Material Type: Article
|
DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophyCellular and molecular life sciences : CMLS, 2023, Vol.80 (3) [Peer Reviewed Journal]ISSN: 1420-9071 ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.21203/rs.3.rs-1758860/v1Full text available |
|
3 |
Material Type: Article
|
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesThe Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00859-0Full text available |
|
4 |
Material Type: Article
|
WNT16 Requires G[alpha] Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in OsteoblastsCalcified tissue international, 2020-03, Vol.106 (3), p.294 [Peer Reviewed Journal]COPYRIGHT 2020 Springer ;ISSN: 0171-967X ;EISSN: 1432-0827Full text available |
|
5 |
Material Type: Article
|
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/[beta]-Catenin Signaling Pathway.(Research Article)BioMed research international, 2020-05 [Peer Reviewed Journal]COPYRIGHT 2020 Hindawi Limited ;ISSN: 2314-6133 ;EISSN: 2314-6141 ;DOI: 10.1155/2020/7681926Full text available |
|
6 |
Material Type: Article
|
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the IPAH/I GeneInternational journal of molecular sciences, 2024-05, Vol.25 (9) [Peer Reviewed Journal]COPYRIGHT 2024 MDPI AG ;ISSN: 1422-0067 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25094598Full text available |
|
7 |
Material Type: Article
|
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencingcc by (c) Pardos Gea, Jose et al., 2023 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess ;ISSN: 1422-0067 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms242216372Full text available |
|
8 |
Material Type: Article
|
MicroRNA-149 is downregulated in Alzheimer’s disease and inhibits β-amyloid accumulation and ameliorates neuronal viability through targeting BACE1Genetics and molecular biology, 2021-01, Vol.44 (1) [Peer Reviewed Journal]ISSN: 1415-4757 ;EISSN: 1678-4685 ;DOI: 10.1590/1415-4757-GMB-2020-0064 ;PMID: 33428703Full text available |
|
9 |
Material Type: Conference Proceeding
|
The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicingHuman Gene Therapy, 2018, Vol.29 (12), p.A44 [Peer Reviewed Journal]ISSN: 1557-7422 ;ISSN: 1043-0342 ;EISSN: 1557-7422Full text available |
|
10 |
Material Type: Article
|
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf RegionOrphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-365, Article 365 [Peer Reviewed Journal]COPYRIGHT 2023 BioMed Central Ltd. ;2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-023-02967-0Full text available |
|
11 |
Material Type: Article
|
Clinical applications of microRNAs [version 3; peer review: 2 approved]F1000 research, 2013-10, Vol.2 [Peer Reviewed Journal]Copyright: © 2013 Hydbring P and Badalian-Very G ;Copyright: © 2013 Hydbring P et al. 2013 ;ISSN: 2046-1402 ;EISSN: 2046-1402 ;DOI: 10.12688/f1000research.2-136.v3 ;PMID: 24627783Full text available |
|
12 |
Material Type: Article
|
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databasesHuman genetics, 2021-09, Vol.140 (9), p.1379 [Peer Reviewed Journal]COPYRIGHT 2021 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02316-wFull text available |
|
13 |
Material Type: Article
|
Neurogenetic DisordersIndian journal of clinical biochemistry, 2022-05, Vol.29 (S1), p.S5 [Peer Reviewed Journal]COPYRIGHT 2022 Springer ;ISSN: 0970-1915 ;EISSN: 0974-0422Full text available |
|
14 |
Material Type: Article
|
A consensus molecular classification of muscle-invasive bladder cancerEuropean urology, 2020-04, Vol.77 (4), p.420-433 [Peer Reviewed Journal]info:eu-repo/semantics/openAccess © 2019 The Authors. Published by Elsevier B.V. on behalf of European Association of Urology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) http://creativecommons.org/licenses/by-nc-nd/4.0/ ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0302-2838 ;EISSN: 1873-7560 ;DOI: 10.1016/j.eururo.2019.09.006Digital Resources/Online E-Resources |
|
15 |
Material Type: Article
|
The Cancer Genome Atlas Pan-Cancer analysis projectNature genetics, 2013-10, Vol.45 (10), p.1113-1120 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2013 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2764 ;PMID: 24071849Full text available |
|
16 |
Material Type: Article
|
Long-Read Sequencing Emerging in Medical GeneticsFrontiers in genetics, 2019-05, Vol.10, p.426-426 [Peer Reviewed Journal]Copyright © 2019 Mantere, Kersten and Hoischen. 2019 Mantere, Kersten and Hoischen ;ISSN: 1664-8021 ;EISSN: 1664-8021 ;DOI: 10.3389/fgene.2019.00426 ;PMID: 31134132Full text available |
|
17 |
Material Type: Article
|
The personal and clinical utility of polygenic risk scoresNature reviews. Genetics, 2018-09, Vol.19 (9), p.581-590 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2018 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-018-0018-x ;PMID: 29789686Full text available |
|
18 |
Material Type: Article
|
Prioritizing diversity in human genomics researchNature reviews. Genetics, 2018-03, Vol.19 (3), p.175-185 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2018 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg.2017.89 ;PMID: 29151588Full text available |
|
19 |
Material Type: Article
|
Epigenetics in Human Obesity and Type 2 DiabetesCell metabolism, 2019-05, Vol.29 (5), p.1028-1044 [Peer Reviewed Journal]2019 The Authors ;Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved. ;2019 The Authors 2019 ;ISSN: 1550-4131 ;EISSN: 1932-7420 ;DOI: 10.1016/j.cmet.2019.03.009 ;PMID: 30982733Full text available |
|
20 |
Material Type: Article
|
A reference panel of 64,976 haplotypes for genotype imputationNature genetics, 2016-10, Vol.48 (10), p.1279-1283 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3643 ;PMID: 27548312Full text available |