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Material Type: Article
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12869-0 ;PMID: 31653860Full text available |
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Material Type: Article
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Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disordersNature communications, 2020-07, Vol.11 (1), p.3358-3358, Article 3358 [Peer Reviewed Journal]This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 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. ;This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-17051-5 ;PMID: 32620757Full text available |
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3 |
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 |
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Material Type: Article
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Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnanciesGenetics in medicine, 2019-11, Vol.21 (11), p.2462-2467 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0550-x ;PMID: 31123319Full text available |
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Material Type: Article
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SREBP2-dependent lipid gene transcription enhances the infection of human dendritic cells by Zika virusNature communications, 2022-09, Vol.13 (1), p.5341-5341, Article 5341 [Peer Reviewed Journal]2022. The Author(s). ;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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-022-33041-1 ;PMID: 36097162Full text available |
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6 |
Material Type: Article
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Hyperhaploidy is a novel high-risk cytogenetic subgroup in multiple myelomaLeukemia, 2017-03, Vol.31 (3), p.637-644 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2017 ;Macmillan Publishers Limited, part of Springer Nature. 2017. ;ISSN: 0887-6924 ;EISSN: 1476-5551 ;DOI: 10.1038/leu.2016.253 ;PMID: 27694925Full text available |
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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 |
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8 |
Material Type: Article
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Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestationsJournal of human genetics, 2015-03, Vol.60 (3), p.133-137 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2015 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2014.116 ;PMID: 25566756Full text available |
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9 |
Material Type: Article
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Risk of stroke in patients with rheumatism: a nationwide longitudinal population-based studyScientific reports, 2014-06, Vol.4 (1), p.5110-5110, Article 5110 [Peer Reviewed Journal]Copyright Nature Publishing Group Jun 2014 ;Copyright © 2014, Macmillan Publishers Limited. All rights reserved 2014 Macmillan Publishers Limited. All rights reserved ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/srep05110 ;PMID: 24898360Full text available |
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10 |
Material Type: Article
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Loss of mTORC1 signalling impairs [beta]-cell homeostasis and insulin processingNature communications, 2017-07, Vol.8, p.16014 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2017 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms16014Full text available |
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11 |
Material Type: Article
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Maternal transmission disequilibrium of rs2248359 in type 2 diabetes mellitus families and its association with vitamin D level in offspringScientific reports, 2018-01, Vol.8 (1), p.1345-7, Article 1345 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-19838-5 ;PMID: 29358755Full text available |
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12 |
Material Type: Article
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The cognitive aids in medicine assessment tool (CMAT) applied to five neonatal resuscitation algorithmsJournal of perinatology, 2017-04, Vol.37 (4), p.387-393 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;Nature America, Inc., part of Springer Nature. 2017. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/jp.2016.235 ;PMID: 28005065Full text available |
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13 |
Material Type: Article
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Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysisEuropean journal of human genetics : EJHG, 2004-07, Vol.12 (7), p.513-520 [Peer Reviewed Journal]2004 INIST-CNRS ;Copyright Nature Publishing Group Jul 2004 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201178 ;PMID: 15054396Full text available |