Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
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 |
|
2 |
Material Type: Article
|
Web-based return of BRCA2 research results: one-year genetic counselling experience in IcelandEuropean journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1656-1661 [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/s41431-020-0665-1 ;PMID: 32523053Full text available |
|
3 |
Material Type: Article
|
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practiceEuropean journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.628-628 [Peer Reviewed Journal]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/s41431-022-01067-0 ;PMID: 35283483Full text available |
|
4 |
Material Type: Article
|
ESHG PPPC Comments on postmortem use of genetic data for research purposesEuropean journal of human genetics : EJHG, 2020-02, Vol.28 (2), p.144-146 [Peer Reviewed Journal]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/s41431-019-0525-z ;PMID: 31595045Full text available |
|
5 |
Material Type: Article
|
Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?Journal of clinical medicine, 2022-08, Vol.11 (15), p.4588 [Peer Reviewed Journal]2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm11154588 ;PMID: 35956203Full text available |
|
6 |
Material Type: Article
|
Relationships and distinctions in iron-regulatory networks responding to interrelated signalsBlood, 2003-05, Vol.101 (9), p.3690-3698 [Peer Reviewed Journal]2003 American Society of Hematology ;2003 INIST-CNRS ;ISSN: 0006-4971 ;EISSN: 1528-0020 ;DOI: 10.1182/blood-2002-07-2140 ;PMID: 12393473Full text available |
|
7 |
Material Type: Article
|
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practiceEuropean journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.493-495 [Peer Reviewed Journal]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. ;Attribution ;The Author(s) 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-01000-x ;PMID: 34916614Full text available |
|
8 |
Material Type: Article
|
Cortisol, cortisone, and BDNF in amniotic fluid in the second trimester of pregnancy: Effect of early life and current maternal stress and socioeconomic statusDevelopment and psychopathology, 2018-08, Vol.30 (3), p.971-980 [Peer Reviewed Journal]Copyright © Cambridge University Press 2018 ;ISSN: 0954-5794 ;EISSN: 1469-2198 ;DOI: 10.1017/S0954579418000147 ;PMID: 29576035Full text available |
|
9 |
Material Type: Article
|
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplexJournal of medical genetics, 2023-01, Vol.60 (1), p.48-56 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108064 ;PMID: 34740919Full text available |
|
10 |
Material Type: Article
|
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practiceEUROPEAN JOURNAL OF HUMAN GENETICS, 2022-05, Vol.30 (5), p.493-495 [Peer Reviewed Journal]ISSN: 1018-4813 ;EISSN: 1476-5438Full text available |
|
11 |
Material Type: Article
|
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.279-281 [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 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01241-4 ;PMID: 36450798Full text available |
|
12 |
Material Type: Article
|
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.368-368 [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/s41431-022-01263-y ;PMID: 36536147Full text available |
|
13 |
Material Type: Article
|
ESHG PPPC Comments on postmortem use of genetic data for research purposesISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0525-zFull text available |
|
14 |
Material Type: Article
|
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practiceEuropean journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1306-1306 [Peer Reviewed Journal]The Author(s), under exclusive licence to European Society of Human Genetics 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), under exclusive licence to European Society of Human Genetics 2022 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01155-1 ;PMID: 35982123Full text available |
|
15 |
Material Type: Article
|
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsEUROPEAN JOURNAL OF HUMAN GENETICS, 2020-11, Vol.29 (3), p.365-377 [Peer Reviewed Journal]ISSN: 1018-4813 ;EISSN: 1476-5438Full text available |
|
16 |
Material Type: Article
|
Familial aortic disease and a large duplication in chromosome 16p13.1Molecular genetics & genomic medicine, 2018-05, Vol.6 (3), p.441-445 [Peer Reviewed Journal]2018 The Authors. published by Wiley Periodicals, Inc. ;2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;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. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.371 ;PMID: 29441698Full text available |
|
17 |
Material Type: Article
|
Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor geneEuropean journal of endocrinology, 2004-06, Vol.150 (6), p.819-823 [Peer Reviewed Journal]2004 INIST-CNRS ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/eje.0.1500819 ;PMID: 15191352Full text available |
|
18 |
Material Type: Article
|
Comparative Evaluation of Diepoxybutane Sensitivity and Cell Cycle Blockage in the Diagnosis of Fanconi AnemiaBlood, 1995-04, Vol.85 (8), p.2233-2237 [Peer Reviewed Journal]1995 American Society of Hematology ;ISSN: 0006-4971 ;EISSN: 1528-0020 ;DOI: 10.1182/blood.V85.8.2233.bloodjournal8582233 ;PMID: 7718895Full text available |
|
19 |
Material Type: Article
|
Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossificationPediatric radiology, 2001-04, Vol.31 (4), p.289-293 [Peer Reviewed Journal]2001 INIST-CNRS ;Springer-Verlag Berlin Heidelberg 2001 ;ISSN: 0301-0449 ;EISSN: 1432-1998 ;DOI: 10.1007/s002470000421 ;PMID: 11321750 ;CODEN: PDRYA5Full text available |