Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospitalScientific reports, 2019-05, Vol.9 (1), p.7767-7767, Article 7767 [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 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-44018-4 ;PMID: 31123326Full text available |
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2 |
Material Type: Article
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Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian womenScientific reports, 2021-09, Vol.11 (1), p.19402-19402, Article 19402 [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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-98928-3 ;PMID: 34593920Full text available |
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3 |
Material Type: Article
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Human blastocysts of normal and abnormal karyotypes display distinct transcriptome profilesScientific reports, 2018-10, Vol.8 (1), p.14906-9, Article 14906 [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/s41598-018-33279-0 ;PMID: 30297919Full text available |
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4 |
Material Type: Article
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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 |
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5 |
Material Type: Article
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Parental origin and mechanisms of formation of triploidy: a study of 25 casesEuropean journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2000 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5200572 ;PMID: 11175278Full text available |
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6 |
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 |
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7 |
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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8 |
Material Type: Article
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Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridizationGenetics in medicine, 2011-06, Vol.13 (6), p.545-552 [Peer Reviewed Journal]2011 The Author(s) ;The American College of Medical Genetics 2011. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1097/GIM.0b013e31820c685b ;PMID: 21415758Full text available |
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9 |
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 |
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10 |
Material Type: Article
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A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestionsScientific reports, 2021-03, Vol.11 (1), p.5596-5596, Article 5596 [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. ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-85108-6 ;PMID: 33692422Full text available |
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11 |
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 |
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12 |
Material Type: Article
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TFEB regulates murine liver cell fate during development and regenerationNature communications, 2020-05, Vol.11 (1), p.2461-2461, Article 2461 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-16300-x ;PMID: 32424153Full text available |
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13 |
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 |
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14 |
Material Type: Article
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Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformationsScientific reports, 2024-04, Vol.14 (1), p.9220-9220 [Peer Reviewed Journal]2024. The Author(s). ;The Author(s) 2024. 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) 2024 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-024-59422-8 ;PMID: 38649697Full text available |
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15 |
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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16 |
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 |
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17 |
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 |
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18 |
Material Type: Article
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Neonatal outcomes of fetuses diagnosed with life-limiting conditions when individualized comfort measures are proposedJournal of perinatology, 2014-06, Vol.34 (6), p.483-487 [Peer Reviewed Journal]COPYRIGHT 2014 Nature Publishing Group ;COPYRIGHT 2014 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2014 ;Nature America, Inc. 2014. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/jp.2014.40 ;PMID: 24651733Full text available |
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19 |
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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20 |
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 |