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European Journal Of Human Genetics : Ejhg
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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The LOVD3 platform: efficient genome-wide sharing of genetic variantsEuropean journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1796-1803 [Peer Reviewed Journal]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. ;The Author(s) 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00959-x ;PMID: 34521998Full text available |
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Understanding the assumptions underlying Mendelian randomizationEuropean journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.653-660 [Peer Reviewed Journal]2022. The Author(s), under exclusive licence to European Society of Human Genetics. ;The Author(s), under exclusive licence to European Society of Human Genetics 2022. ;The Author(s), under exclusive licence to European Society of Human Genetics 2022 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01038-5 ;PMID: 35082398Full text available |
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Stepwise ABC system for classification of any type of genetic variantEuropean journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.150-159 [Peer Reviewed Journal]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. ;The Author(s) 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00903-z ;PMID: 33981013Full text available |
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Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsEuropean journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.365-377 [Peer Reviewed Journal]The Author(s) 2020. 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. ;Attribution ;The Author(s) 2020 ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00758-w ;PMID: 33223530Full text available |
| 5 |
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Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genesEuropean journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1745-1755 [Peer Reviewed Journal]2021. The Author(s), under exclusive licence to European Society of Human Genetics. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021. ;The Author(s), under exclusive licence to European Society of Human Genetics 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00849-2 ;PMID: 33737726Full text available |
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Material Type: Article
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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseEuropean journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.576-586 [Peer Reviewed Journal]The Author(s) 2019. 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. ;The Author(s) 2019. This work is published under https://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) 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0548-5 ;PMID: 31836858Full text available |
| 7 |
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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variantsEuropean journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.918-928 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.283 ;PMID: 23299917Full text available |
| 8 |
Material Type: Article
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Host genomics of SARS-CoV-2 infectionEuropean journal of human genetics : EJHG, 2022-08, Vol.30 (8), p.908-914 [Peer Reviewed Journal]The Author(s) 2022. 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. ;The Author(s) 2022 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01136-4 ;PMID: 35768520Full text available |
| 9 |
Material Type: Article
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Inflammasome genetics and complex diseases: a comprehensive reviewEuropean journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1307-1321 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 2020. ;The Author(s), under exclusive licence to European Society of Human Genetics 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-0631-y ;PMID: 32499599Full text available |
| 10 |
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GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studiesEuropean journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.949-952 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.274 ;PMID: 24301061Full text available |
| 11 |
Material Type: Article
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Sex-specific genetic effects across biomarkersEuropean journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.154-163 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 2020. ;The Author(s), under exclusive licence to European Society of Human Genetics 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00712-w ;PMID: 32873964Full text available |
| 12 |
Material Type: Article
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Atrial fibrillation-a complex polygenetic diseaseEuropean journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1051-1060 [Peer Reviewed Journal]2020. The Author(s), under exclusive licence to Springer Nature Switzerland AG part of Springer Nature. ;The Author(s), under exclusive licence to Springer Nature Switzerland AG part of Springer Nature 2020. 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. ;The Author(s), under exclusive licence to Springer Nature Switzerland AG part of Springer Nature 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00784-8 ;PMID: 33279945Full text available |
| 13 |
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Centenarian controls increase variant effect sizes by an average twofold in an extreme case-extreme control analysis of Alzheimer's diseaseEuropean journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.244-253 [Peer Reviewed Journal]2018. 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. ;The Author(s) 2018 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-018-0273-5 ;PMID: 30258121Full text available |
| 14 |
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Cascade health service use in family members following genetic testing in children: a scoping literature reviewEuropean journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1601-1610 [Peer Reviewed Journal]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. ;The Author(s) 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00952-4 ;PMID: 34446836Full text available |
| 15 |
Material Type: Article
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An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adultsEuropean journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.387-395 [Peer Reviewed Journal]The Author(s) 2020. 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. ;The Author(s) 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00726-4 ;PMID: 32948849Full text available |
| 16 |
Material Type: Article
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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic settingEuropean journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1797-1802 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2016 ;Copyright © 2016 Macmillan Publishers Limited, part of Springer Nature. 2016 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.118 ;PMID: 27650965Full text available |
| 17 |
Material Type: Article
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What is the meaning of a 'genomic result' in the context of pregnancy?European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.225-230 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 2020. ;The Author(s), under exclusive licence to European Society of Human Genetics 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00722-8 ;PMID: 32929236Full text available |
| 18 |
Material Type: Article
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Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseasesEuropean journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.404-409 [Peer Reviewed Journal]Copyright Nature Publishing Group Apr 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.199 ;PMID: 28074886Full text available |
| 19 |
Material Type: Article
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Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effectsEuropean journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1745-1756 [Peer Reviewed Journal]2019. 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. ;The Author(s) 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0468-4 ;PMID: 31296926Full text available |
| 20 |
Material Type: Article
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Perceptions of genetic variant reclassification in patients with inherited cardiac diseaseEuropean journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1134-1142 [Peer Reviewed Journal]2019© European Society of Human Genetics 2019 ;European Society of Human Genetics 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0377-6 ;PMID: 30903112Full text available |
Results 1 - 20 of 151 for All Library Resources
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