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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Is the prevalence of Klinefelter syndrome increasing?European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Peer Reviewed Journal]2008 INIST-CNRS ;Copyright Nature Publishing Group Feb 2008 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201956 ;PMID: 18000523Full text available |
| 2 |
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Feb 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.148 ;PMID: 20736977Full text available |
| 3 |
Material Type: Article
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samplesEuropean journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.112-121 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright Nature Publishing Group Jan 2009 ;Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2008.161 ;PMID: 18781187Full text available |
| 4 |
Material Type: Article
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Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocentesesEuropean journal of human genetics : EJHG, 2009-07, Vol.17 (7), p.897-903 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright Nature Publishing Group Jul 2009 ;Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2008.265 ;PMID: 19156167Full text available |
| 5 |
Material Type: Article
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flowEuropean journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1230-1237 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Dec 2011 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.119 ;PMID: 21694736Full text available |
| 6 |
Material Type: Article
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Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortionsEuropean journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.539-547 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2001 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5200669 ;PMID: 11464246Full text available |
| 7 |
Material Type: Article
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Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studyEuropean journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1701-1715 [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/s41431-019-0443-0 ;PMID: 31231136Full text available |
| 8 |
Material Type: Article
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningEuropean journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1438-1450 [Peer Reviewed Journal]Copyright Nature Publishing Group Nov 2015 ;Copyright © 2015 Macmillan Publishers Limited 2015 Macmillan Publishers Limited ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.57 ;PMID: 25782669Full text available |
| 9 |
Material Type: Article
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Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsiesEuropean journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.901-906 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2015 ;Copyright © 2015 Macmillan Publishers Limited 2015 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2014.222 ;PMID: 25351780Full text available |
| 10 |
Material Type: Article
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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy managementEuropean journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1286-1293 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2015 ;Copyright © 2015 Macmillan Publishers Limited 2015 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2014.282 ;PMID: 25585704Full text available |
| 11 |
Material Type: Article
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Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in EuropeEuropean journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.521-526 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group May 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.246 ;PMID: 22234154Full text available |
| 12 |
Material Type: Article
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Non-invasive prenatal testing: ethical issues exploredEuropean journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.272-277 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2010 ;Copyright © 2010 Macmillan Publishers Limited 2010 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2009.203 ;PMID: 19953123Full text available |
| 13 |
Material Type: Article
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Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnanciesEuropean journal of human genetics : EJHG, 2004-04, Vol.12 (4), p.272-278 [Peer Reviewed Journal]2004 INIST-CNRS ;Copyright Nature Publishing Group Apr 2004 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201121 ;PMID: 14673477Full text available |
| 14 |
Material Type: Article
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The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletionsEuropean journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1445-1452 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.9 ;PMID: 26956250Full text available |
| 15 |
Material Type: Article
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Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesEuropean journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.725-730 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.253 ;PMID: 23211699Full text available |
| 16 |
Material Type: Article
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Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalitiesEuropean journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.3-9 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Jan 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.138 ;PMID: 20842178Full text available |
| 17 |
Material Type: Article
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Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.171-175 [Peer Reviewed Journal]Copyright Nature Publishing Group Feb 2005 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201307 ;PMID: 15483643Full text available |
| 18 |
Material Type: Article
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Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villiEuropean journal of human genetics : EJHG, 2006-03, Vol.14 (3), p.282-288 [Peer Reviewed Journal]2006 INIST-CNRS ;Copyright Nature Publishing Group Mar 2006 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201564 ;PMID: 16418738Full text available |
| 19 |
Material Type: Article
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Rapid aneuploidy detection or karyotyping? Ethical reflectionEuropean journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1020-1025 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Oct 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.82 ;PMID: 21629296Full text available |
| 20 |
Material Type: Article
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Recurrent triploidy of maternal originEuropean journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.972-974 [Peer Reviewed Journal]2004 INIST-CNRS ;Copyright Nature Publishing Group Dec 2003 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201076 ;PMID: 14508508Full text available |
Results 1 - 20 of 22 for All Library Resources
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