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1 |
Material Type: Article
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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 |
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Material Type: Conference Proceeding
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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 |
3 |
Material Type: Article
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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 |
4 |
Material Type: Article
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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 |
5 |
Material Type: Article
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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 |
6 |
Material Type: Article
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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 |
7 |
Material Type: Article
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationGenetics in medicine, 2021-08, Vol.23 (8), p.1506-1513 [Peer Reviewed Journal]2021 The Author(s) ;2021. The Author(s). ;The Author(s) 2021. This work is published 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01170-5 ;PMID: 34012067Full text available |
8 |
Material Type: Article
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The repertoire of mutational signatures in human cancerNature (London), 2020-02, Vol.578 (7793), p.94-101 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1943-3 ;PMID: 32025018Full text available |
9 |
Material Type: Article
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The mutational constraint spectrum quantified from variation in 141,456 humansNature (London), 2020-05, Vol.581 (7809), p.434-443 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2020 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2308-7 ;PMID: 32461654Full text available |
10 |
Material Type: Article
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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes articleNature genetics, 2018-04, Vol.50 (4), p.559 [Peer Reviewed Journal]ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0084-1Full text available |
11 |
Material Type: Article
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The evolutionary history of 2,658 cancersNature (London), 2020-02, Vol.578 (7793), p.122-128 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-019-1907-7 ;PMID: 32025013Full text available |
12 |
Material Type: Article
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Comprehensive Analysis of Hypermutation in Human CancerCell, 2017-11, Vol.171 (5), p.1042-1056.e10 [Peer Reviewed Journal]2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;ISSN: 1097-4172 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2017.09.048 ;PMID: 29056344Full text available |
13 |
Material Type: Article
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Patterns of somatic structural variation in human cancer genomesNature (London), 2020-02, Vol.578 (7793), p.112-121 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-019-1913-9 ;PMID: 32025012Full text available |
14 |
Material Type: Article
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Pan-cancer analysis of whole genomesNature (London), 2020-02, Vol.578 (7793), p.82-93 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;info:eu-repo/semantics/openAccess ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1969-6 ;PMID: 32025007Full text available |
15 |
Material Type: Article
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer SubtypesAmerican journal of human genetics, 2019-01, Vol.104 (1), p.21-34 [Peer Reviewed Journal]2018 The Authors ;Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved. ;2018 The Authors 2018 ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.11.002 ;PMID: 30554720Full text available |
16 |
Material Type: Article
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Unexplored therapeutic opportunities in the human genomeNature reviews. Drug discovery, 2018-05, Vol.17 (5), p.317-332 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group May 2018 ;ISSN: 1474-1776 ;EISSN: 1474-1784 ;DOI: 10.1038/nrd.2018.14 ;PMID: 29472638Full text available |
17 |
Material Type: Article
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A multimodal cell census and atlas of the mammalian primary motor cortexNature (London), 2021-10, Vol.598 (7879), p.86-102 [Peer Reviewed Journal]2021. The Author(s). ;Copyright Nature Publishing Group Oct 7, 2021 ;The Author(s) 2021 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-03950-0 ;PMID: 34616075Full text available |
18 |
Material Type: Article
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencingNature genetics, 2020-03, Vol.52 (3), p.331-341 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2020 ;The Author(s) 2020 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-019-0576-7 ;PMID: 32025003Full text available |
19 |
Material Type: Article
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A high-stringency blueprint of the human proteomeNature communications, 2020-10, Vol.11 (1), p.5301-5301, Article 5301 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-19045-9 ;PMID: 33067450Full text available |
20 |
Material Type: Article
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Genome-wide association analysis identifies 13 new risk loci for schizophreniaNature genetics, 2013-10, Vol.45 (10), p.1150-1159 [Peer Reviewed Journal]COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2013 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2742 ;PMID: 23974872Full text available |