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Results 1 - 20 of 38  for All Library Resources

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1
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

Scientific 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: 31123326

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2
Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
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Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

Scientific 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: 34593920

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3
Viperin is an important host restriction factor in control of Zika virus infection
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Viperin is an important host restriction factor in control of Zika virus infection

Scientific reports, 2017-06, Vol.7 (1), p.4475-14, Article 4475 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jun 2017 ;The Author(s) 2017 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-017-04138-1 ;PMID: 28667332

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4
Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases
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Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases

Journal of human genetics, 1998-06, Vol.43 (2), p.85-90 [Peer Reviewed Journal]

ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1007/s100380050046 ;PMID: 9621511

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5
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants
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Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants

Genetics in medicine, 2021-07, Vol.23 (7), p.1349-1355 [Peer Reviewed Journal]

2021 The Author(s) ;The Author(s) 2021. corrected publication 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, corrected publication 2021 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01135-8 ;PMID: 33731879

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6
A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions
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A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions

Scientific 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: 33692422

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7
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

European 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: 25782669

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8
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities
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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 abnormalities

European 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: 23211699

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9
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

European 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: 25585704

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10
Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases
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Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

Scientific reports, 2024-01, Vol.14 (1), p.2304-2304, Article 2304 [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 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-024-52767-0 ;PMID: 38280905

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11
Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples
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Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples

Journal of human genetics, 2007-11, Vol.52 (11), p.934-942 [Peer Reviewed Journal]

The Japan Society of Human Genetics and Springer 2007. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1007/s10038-007-0199-1 ;PMID: 17940726

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12
Rapid aneuploidy detection or karyotyping? Ethical reflection
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Rapid aneuploidy detection or karyotyping? Ethical reflection

European 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: 21629296

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13
Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations
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Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations

Journal 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: 25566756

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14
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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15
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Genetics 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: 30828085

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16
Children with sex chromosome trisomies: parental disclosure of genetic status
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Children with sex chromosome trisomies: parental disclosure of genetic status

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.638-644 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.168 ;PMID: 26306644

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17
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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18
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study
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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 study

European 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: 31231136

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19
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
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Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses

European 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: 19156167

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20
Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters
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Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters

European journal of human genetics : EJHG, 2019-10, Vol.27 (S2), p.1814-1920 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2019 ;European Society of Human Genetics 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0493-3

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