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Kết quả 1 - 10 của 214 trong Tất cả tài nguyên
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
Material Type: Bài báo
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Prevalence of congenital amusiaEuropean journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.625-630 [Tạp chí có phản biện]Copyright Nature Publishing Group May 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.2017.15 ;PMID: 28224991Tài liệu số/Tài liệu điện tử |
| 2 |
Material Type: Bài báo
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Diagnostic exome sequencing in 266 Dutch patients with visual impairmentEuropean journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.591-599 [Tạp chí có phản biện]Copyright Nature Publishing Group May 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.2017.9 ;PMID: 28224992Tài liệu số/Tài liệu điện tử |
| 3 |
Material Type: Bài báo
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesEuropean journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.99-104 [Tạp chí có phản biện]Copyright Nature Publishing Group Jan 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.72 ;PMID: 23591405Tài liệu số/Tài liệu điện tử |
| 4 |
Material Type: Bài báo
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The Young Geneticists Network and the ESHG-Young committee, a forward-looking international communityEuropean journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.252-255 [Tạp chí có phản biện]The Author(s), under exclusive licence to European Society of Human Genetics 2021. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s), under exclusive licence to European Society of Human Genetics 2021 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-01019-0 ;PMID: 35027647Tài liệu số/Tài liệu điện tử |
| 5 |
Material Type: Bài báo
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Alagille syndrome: pathogenesis, diagnosis and managementEuropean journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257 [Tạp chí có phản biện]2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.181 ;PMID: 21934706Tài liệu số/Tài liệu điện tử |
| 6 |
Material Type: Bài báo
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Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical featuresEuropean journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1040-1048 [Tạp chí có phản biện]Copyright Nature Publishing Group Sep 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.2017.98 ;PMID: 28635954Tài liệu số/Tài liệu điện tử |
| 7 |
Material Type: Bài báo
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AniridiaEuropean journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1011-1017 [Tạp chí có phản biện]2015 INIST-CNRS ;Copyright Nature Publishing Group Oct 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.100 ;PMID: 22692063Tài liệu số/Tài liệu điện tử |
| 8 |
Material Type: Bài báo
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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeEuropean journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.526-530 [Tạp chí có phản biện]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. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. corrected publication 2022. ;The Author(s), under exclusive licence to European Society of Human Genetics 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.corrected publication 2022 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01234-3 ;PMID: 36404347Tài liệu số/Tài liệu điện tử |
| 9 |
Material Type: Bài báo
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Developmental implications of genetic testing for physical indicationsEuropean journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1297-1300 [Tạp chí có phản biện]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. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;The Author(s), under exclusive licence to European Society of Human Genetics 2022, Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-022-01181-z ;PMID: 36068265Tài liệu số/Tài liệu điện tử |
| 10 |
Material Type: Bài báo
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingEuropean journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.79-87 [Tạp chí có phản biện]Copyright Nature Publishing Group Jan 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.77 ;PMID: 23695279Tài liệu số/Tài liệu điện tử |
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