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1
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. This work is licensed 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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0976-2 ;PMID: 30642344

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2
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Genes, 2021-06, Vol.12 (6), p.798 [Peer Reviewed Journal]

2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12060798 ;PMID: 34073864

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3
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
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The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy

Journal of multidisciplinary healthcare, 2015, Vol.8 (default), p.323-334 [Peer Reviewed Journal]

COPYRIGHT 2015 Dove Medical Press Limited ;COPYRIGHT 2015 Dove Medical Press Limited ;2015. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Tartaglia et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License 2015 ;ISSN: 1178-2390 ;EISSN: 1178-2390 ;DOI: 10.2147/JMDH.S80242 ;PMID: 26229481

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4
Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape Province
Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape Province
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Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape Province

Onderstepoort journal of veterinary research, 1992, Vol.59 (4), p.259-273 [Peer Reviewed Journal]

ISSN: 0030-2465 ;EISSN: 2219-0635 ;PMID: 1297956

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5
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed 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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-020-00521-2 ;PMID: 33407708

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6
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

PloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Samango-Sprouse et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Samango-Sprouse et al 2016 Samango-Sprouse et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0161045 ;PMID: 27512996

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7
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Nature 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: 31653860

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8
Which neurodevelopmental disorders get researched and why?
Which neurodevelopmental disorders get researched and why?
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Which neurodevelopmental disorders get researched and why?

PloS one, 2010-11, Vol.5 (11), p.e15112 [Peer Reviewed Journal]

COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Dorothy V. M. Bishop. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Dorothy V. M. Bishop. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0015112 ;PMID: 21152085

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9
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties

PloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Peer Reviewed Journal]

COPYRIGHT 2009 Public Library of Science ;2009 Monkhorst et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Monkhorst et al. 2009 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0005616 ;PMID: 19440388

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10
Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation
Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation
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Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation

Nucleic acids research, 2021-09, Vol.49 (16), p.9097-9116 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2021 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab682 ;PMID: 34403484

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11
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
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Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

BMC pediatrics, 2024-04, Vol.24 (1), p.263-263 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed 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: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-024-04723-0 ;PMID: 38649921

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12
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications
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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1833-n/a [Peer Reviewed Journal]

2021 The Authors. published by Wiley Periodicals LLC. ;2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1833 ;PMID: 34738344

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13
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies
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Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1654-n/a [Peer Reviewed Journal]

2021 The Authors. published by Wiley Periodicals LLC. ;2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1654 ;PMID: 33755350

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14
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

BMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s). 2017 ;ISSN: 1471-2350 ;EISSN: 1471-2350 ;DOI: 10.1186/s12881-017-0371-1 ;PMID: 28137251

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15
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

Pakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]

Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285

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16
Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures
Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures
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Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures

BMC genetics, 2006-07, Vol.7 (1), p.41-41, Article 41 [Peer Reviewed Journal]

Copyright © 2006 Gartler et al; licensee BioMed Central Ltd. 2006 Gartler et al; licensee BioMed Central Ltd. ;ISSN: 1471-2156 ;EISSN: 1471-2156 ;DOI: 10.1186/1471-2156-7-41 ;PMID: 16817970

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17
Triploidy--Observations in 154 Diandric Cases
Triploidy--Observations in 154 Diandric Cases
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Triploidy--Observations in 154 Diandric Cases

PloS one, 2015-11, Vol.10 (11), p.e0142545-e0142545 [Peer Reviewed Journal]

2015 Scholz et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Scholz et al 2015 Scholz et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0142545 ;PMID: 26562155

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18
Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal
Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal
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Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), 2020-01, Vol.9 (1), p.54-58 [Peer Reviewed Journal]

Copyright © 2020 Asia-Pacific Academy of Ophthalmology. Published by Wolters Kluwer Health, Inc. on behalf of the Asia-Pacific Academy of Ophthalmology. 2020 ;EISSN: 2162-0989 ;DOI: 10.1097/01.APO.0000617936.16124.ba ;PMID: 31990747

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19
Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations
Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations
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Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations

Lupus science & medicine, 2024-03, Vol.11 (1), p.e001061 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2024 ;ISSN: 2053-8790 ;EISSN: 2053-8790 ;DOI: 10.1136/lupus-2023-001061 ;PMID: 38458775

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20
Experiences of Adversity and Validity of Baseline Concussion Testing
Experiences of Adversity and Validity of Baseline Concussion Testing
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Experiences of Adversity and Validity of Baseline Concussion Testing

Journal of athletic training, 2024-04, Vol.59 (4), p.373-380 [Peer Reviewed Journal]

by the National Athletic Trainers’ Association, Inc. ;Copyright National Athletic Trainers Association Feb 2023 ;Copyright National Athletic Trainers Association Apr 2024 ;ISSN: 1062-6050 ;EISSN: 1938-162X ;DOI: 10.4085/1062-6050-0502.22 ;PMID: 36827602

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