Results 1 - 20 of 1,393 for All Library Resources
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| 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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Optical genome mapping enables constitutional chromosomal aberration detectionAmerican journal of human genetics, 2021-08, Vol.108 (8), p.1409-1422 [Peer Reviewed Journal]2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.05.012 ;PMID: 34237280Full text available |
| 2 |
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromesGenetics in medicine, 2019-09, Vol.21 (9), p.1998-2006 [Peer Reviewed Journal]2019 The Author(s) ;2019© American College of Medical Genetics and Genomics 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0467-4 ;PMID: 30828085Full text available |
| 3 |
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The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory ResponsesImmunity (Cambridge, Mass.), 2016-05, Vol.44 (5), p.1005-1019 [Peer Reviewed Journal]2016 Elsevier Inc. ;Copyright © 2016 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited May 17, 2016 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2016.04.019 ;PMID: 27192566Full text available |
| 4 |
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Prenatal diagnosis by chromosomal microarray analysisFertility and sterility, 2018-02, Vol.109 (2), p.201-212 [Peer Reviewed Journal]2017 American Society for Reproductive Medicine ;Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2018.01.005 ;PMID: 29447663Full text available |
| 5 |
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal]2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAGFull text available |
| 6 |
Material Type: Article
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In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled studyFertility and sterility, 2017-05, Vol.107 (5), p.1122-1129 [Peer Reviewed Journal]American Society for Reproductive Medicine ;2017 American Society for Reproductive Medicine ;Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2017.03.011 ;PMID: 28433371Full text available |
| 7 |
Material Type: Article
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Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysisNeurology, 2014-07, Vol.83 (3), p.253-260 [Peer Reviewed Journal]2014 American Academy of Neurology ;2015 INIST-CNRS ;2014 American Academy of Neurology. ;2014 American Academy of Neurology 2014 American Academy of Neurology ;ISSN: 0028-3878 ;EISSN: 1526-632X ;DOI: 10.1212/WNL.0000000000000596 ;PMID: 24928124 ;CODEN: NEURAIFull text available |
| 8 |
Material Type: Article
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Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortiumHuman molecular genetics, 2022-02, Vol.31 (4), p.625-637 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2021 ;The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;Attribution - NonCommercial ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddab280 ;PMID: 34559195Full text available |
| 9 |
Material Type: Article
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Early colon cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-upAnnals of oncology, 2013-10, Vol.24 Suppl 6, p.vi64-vi72 [Peer Reviewed Journal]ISSN: 0923-7534 ;EISSN: 1569-8041 ;DOI: 10.1093/annonc/mdt354 ;PMID: 24078664Full text available |
| 10 |
Material Type: Article
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X chromosome regulation: diverse patterns in development, tissues and diseaseNature reviews. Genetics, 2014-06, Vol.15 (6), p.367-378 [Peer Reviewed Journal]COPYRIGHT 2014 Nature Publishing Group ;COPYRIGHT 2014 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2014 ;2014 Macmillan Publishers Limited. All rights reserved 2014 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg3687 ;PMID: 24733023Full text available |
| 11 |
Material Type: Article
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screeningGenetics in medicine, 2021-06, Vol.23 (6), p.1137-1142 [Peer Reviewed Journal]2021 The Author(s) ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1098-3600 ;ISSN: 1530-0366 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01101-4 ;PMID: 33564150Full text available |
| 12 |
Material Type: Article
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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesPrenatal diagnosis, 2015-08, Vol.35 (8), p.801-809 [Peer Reviewed Journal]2015 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4613 ;PMID: 25962607Full text available |
| 13 |
Material Type: Article
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Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stageNature communications, 2012, Vol.3 (1), p.1251-1251, Article 1251 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2012 ;Copyright © 2012, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms2249 ;PMID: 23212380Full text available |
| 14 |
Material Type: Article
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A Track Record on SHOX: From Basic Research to Complex Models and TherapyEndocrine reviews, 2016-08, Vol.37 (4), p.417-448 [Peer Reviewed Journal]Copyright © 2016 by The Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2016-1036 ;PMID: 27355317Full text available |
| 15 |
Material Type: Book
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Cancer cytogeneticsISBN: 0470181796 ;ISBN: 9780470181799 ;EISBN: 0470930497 ;EISBN: 9780470930496 ;DOI: 10.1002/9781118010136Full text available |
| 16 |
Material Type: Article
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DNA Sequencing versus Standard Prenatal Aneuploidy ScreeningThe New England journal of medicine, 2014-02, Vol.370 (9), p.799-808 [Peer Reviewed Journal]Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1311037 ;PMID: 24571752 ;CODEN: NEJMAGFull text available |
| 17 |
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 |
| 18 |
Material Type: Article
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Genetics of Congenital Heart Disease: The Glass Half EmptyCirculation research, 2013-02, Vol.112 (4), p.707-720 [Peer Reviewed Journal]2013 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.112.300853 ;PMID: 23410880Full text available |
| 19 |
Material Type: Article
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Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencingFertility and sterility, 2017-05, Vol.107 (5), p.1085-1091 [Peer Reviewed Journal]The Authors ;2017 The Authors ;Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2017.03.024 ;PMID: 28390692Full text available |
| 20 |
Material Type: Article
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BCL2 and miR-15/16: from gene discovery to treatmentCell death and differentiation, 2018-01, Vol.25 (1), p.21-26 [Peer Reviewed Journal]Copyright Nature Publishing Group Jan 2018 ;Copyright © 2018 ADMC Associazione Differenziamento e Morte Cellulare 2018 ADMC Associazione Differenziamento e Morte Cellulare ;ISSN: 1350-9047 ;EISSN: 1476-5403 ;DOI: 10.1038/cdd.2017.159 ;PMID: 28984869Full text available |
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