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Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
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Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations

Scientific 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: 38649697

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2
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters
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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

European journal of human genetics : EJHG, 2020-12, Vol.28 (Suppl 1), p.798-1016 [Peer Reviewed Journal]

European Society of Human Genetics 2020. Modified from the conference website and published with permission 2020. ;European Society of Human Genetics 2020. Modified from the conference website and published with permission 2020 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00741-5 ;PMID: 33262486

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3
Mosaic Turner syndrome shows reduced penetrance in an adult population study
Mosaic Turner syndrome shows reduced penetrance in an adult population study
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Mosaic Turner syndrome shows reduced penetrance in an adult population study

Genetics in medicine, 2019-04, Vol.21 (4), p.877-886 [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: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0271-6 ;PMID: 30181606

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4
European guidelines for constitutional cytogenomic analysis
European guidelines for constitutional cytogenomic analysis
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European guidelines for constitutional cytogenomic analysis

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.1-16 [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: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-018-0244-x ;PMID: 30275486

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5
Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results
Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results
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Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results

Genetics in medicine, 2018-09, Vol.20 (9), p.910-917 [Peer Reviewed Journal]

Copyright Nature Publishing Group Sep 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.219 ;PMID: 29215645

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6
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Genetics in medicine, 2017-01, Vol.19 (1), p.53-61 [Peer Reviewed Journal]

2017 The Author(s) ;Copyright Nature Publishing Group Jan 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.54 ;PMID: 27195815

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7
Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges
Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges
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Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

Genetics in medicine, 2017-01, Vol.19 (1), p.83-89 [Peer Reviewed Journal]

2017 The Author(s) ;Copyright Nature Publishing Group Jan 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.69 ;PMID: 27337029

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8
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
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Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetics in medicine, 2016-10, Vol.18 (10), p.1056-1065 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.97 ;PMID: 27467454

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9
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

Genetics in medicine, 2016-09, Vol.18 (9), p.940-948 [Peer Reviewed Journal]

Copyright Nature Publishing Group Sep 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.199 ;PMID: 26820068

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10
Higher limb asymmetry in deceased human fetuses and infants with aneuploidy
Higher limb asymmetry in deceased human fetuses and infants with aneuploidy
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Higher limb asymmetry in deceased human fetuses and infants with aneuploidy

Scientific reports, 2014-01, Vol.4 (1), p.3703-3703, Article 3703 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jan 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/srep03703 ;PMID: 24424506

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11
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
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Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

European 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: 22234154

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12
The phenotype of recurrent 10q22q23 deletions and duplications
The phenotype of recurrent 10q22q23 deletions and duplications
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The phenotype of recurrent 10q22q23 deletions and duplications

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.400-408 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Apr 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.2010.211 ;PMID: 21248748

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13
Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
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Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement

Journal of human genetics, 2008-07, Vol.53 (7), p.622-628 [Peer Reviewed Journal]

The Japan Society of Human Genetics and Springer 2008. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1007/s10038-008-0290-2 ;PMID: 18414779

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