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Results 21 - 40 of 101  for All Library Resources

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21
Organ Abnormalities Caused by Turner Syndrome
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Organ Abnormalities Caused by Turner Syndrome

Cells (Basel, Switzerland), 2023-05, Vol.12 (10), p.1365 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 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. ;2023 by the authors. 2023 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells12101365 ;PMID: 37408200

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22
The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis
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The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis

Journal of clinical laboratory analysis, 2020-12, Vol.34 (12), p.e23514-n/a [Peer Reviewed Journal]

2020 The Authors. Published by Wiley Periodicals LLC ;2020 The Authors. Journal of Clinical Laboratory Analysis Published by Wiley Periodicals LLC. ;2020. 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: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.23514 ;PMID: 32864771

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23
Aplastic Anemia in Triple X Syndrome
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Aplastic Anemia in Triple X Syndrome

Children (Basel), 2023-01, Vol.10 (1), p.100 [Peer Reviewed Journal]

2023 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. ;2023 by the authors. 2023 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children10010100 ;PMID: 36670650

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24
Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening
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Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening

Journal of clinical laboratory analysis, 2020-08, Vol.34 (8), p.e23347-n/a [Peer Reviewed Journal]

2020 The Authors. Published by Wiley Periodicals, Inc. ;2020 The Authors. Journal of Clinical Laboratory Analysis Published by Wiley Periodicals, Inc. ;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. ;ISSN: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.23347 ;PMID: 32342531

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25
Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forward
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Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forward

PLoS pathogens, 2021-12, Vol.17 (12), p.e1010061-e1010061 [Peer Reviewed Journal]

COPYRIGHT 2021 Public Library of Science ;2021 Olbrich 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. ;2021 Olbrich et al 2021 Olbrich et al ;ISSN: 1553-7374 ;ISSN: 1553-7366 ;EISSN: 1553-7374 ;DOI: 10.1371/journal.ppat.1010061 ;PMID: 34882748

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26
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases
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HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases

Glycoconjugate journal, 2021-04, Vol.38 (2), p.201-211 [Peer Reviewed Journal]

Springer Science+Business Media, LLC, part of Springer Nature 2020 ;COPYRIGHT 2021 Springer ;Springer Science+Business Media, LLC, part of Springer Nature 2020. ;ISSN: 0282-0080 ;EISSN: 1573-4986 ;DOI: 10.1007/s10719-020-09947-7 ;PMID: 32915358

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27
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;2017. This work is licensed under http://creativecommons.org/licenses/by/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736

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28
The Genomic Architecture of Bladder Exstrophy Epispadias Complex
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The Genomic Architecture of Bladder Exstrophy Epispadias Complex

Genes, 2021-07, Vol.12 (8), p.1149 [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/genes12081149 ;PMID: 34440323

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29
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

International journal of molecular sciences, 2021-10, Vol.22 (21), p.11495 [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: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222111495 ;PMID: 34768925

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30
Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1087-n/a [Peer Reviewed Journal]

2019 The Authors. published by Wiley Periodicals, Inc. ;2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;2020. This work is published under http://creativecommons.org/licenses/by-nc/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/mgg3.1087 ;PMID: 31830383

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31
Cardiovascular outcomes of pregnancy in Turner syndrome
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Article
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Cardiovascular outcomes of pregnancy in Turner syndrome

Heart (British Cardiac Society), 2021-01, Vol.107 (1), p.61-66 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-316719 ;PMID: 32669396

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32
Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies
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Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies

PeerJ (San Francisco, CA), 2020-11, Vol.8, p.e10236-e10236, Article e10236 [Peer Reviewed Journal]

2020 Capkova et al. ;COPYRIGHT 2020 COPYRIGHT 2012-2015 PeerJ, Inc / Public user content licensed CC-BY 4.0 unless otherwise specified. Content is available for free at https://peerj.com ;COPYRIGHT 2020 PeerJ. Ltd. ;2020 Capkova et al. 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, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Capkova et al. 2020 Capkova et al. ;ISSN: 2167-8359 ;EISSN: 2167-8359 ;DOI: 10.7717/peerj.10236 ;PMID: 33240610

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33
Genetic counseling prior to assisted reproductive technology
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Article
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Genetic counseling prior to assisted reproductive technology

Reproductive medicine and biology, 2021-04, Vol.20 (2), p.133-143 [Peer Reviewed Journal]

2020 The Authors. by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine. ;2020 The Authors. Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine. ;COPYRIGHT 2021 John Wiley & Sons, Inc. ;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: 1445-5781 ;EISSN: 1447-0578 ;DOI: 10.1002/rmb2.12361 ;PMID: 33850446

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34
SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment
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Article
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SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment

Nature communications, 2015-12, Vol.6 (1), p.10004, Article 10004 [Peer Reviewed Journal]

Copyright Nature Publishing Group Dec 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms10004 ;PMID: 26643973

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35
Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary Stenosis
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Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary Stenosis

The American journal of cardiology, 2023-03, Vol.191, p.92-100 [Peer Reviewed Journal]

2022 Elsevier Inc. ;Copyright © 2022 Elsevier Inc. All rights reserved. ;2022. Elsevier Inc. ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2022.12.015 ;PMID: 36669383

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36
Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study
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Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study

BJOG : an international journal of obstetrics and gynaecology, 2018-06, Vol.125 (7), p.848 [Peer Reviewed Journal]

2017 Royal College of Obstetricians and Gynaecologists. ;EISSN: 1471-0528 ;DOI: 10.1111/1471-0528.15006 ;PMID: 29090507

Digital Resources/Online E-Resources

37
Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders
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Article
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Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders

American family physician, 2021-04, Vol.103 (8), p.481-492 [Peer Reviewed Journal]

COPYRIGHT 2021 American Academy of Family Physicians ;Copyright American Academy of Family Physicians Apr 15, 2021 ;ISSN: 0002-838X ;EISSN: 1532-0650 ;PMID: 33856167

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38
Long-term neurodevelopment in children with resected congenital lung abnormalities
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Long-term neurodevelopment in children with resected congenital lung abnormalities

European journal of pediatrics, 2023-09, Vol.182 (9), p.3845-3855 [Peer Reviewed Journal]

The Author(s) 2023 ;2023. The Author(s). ;The Author(s) 2023. 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. ;ISSN: 1432-1076 ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-023-05054-5 ;PMID: 37326640

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39
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease
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Article
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Genes, 2022-06, Vol.13 (7), p.1172 [Peer Reviewed Journal]

COPYRIGHT 2022 MDPI AG ;2022 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. ;2022 by the authors. 2022 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes13071172 ;PMID: 35885957

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40
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688 [Peer Reviewed Journal]

2021 The Author(s) ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-01052-2 ;PMID: 33442026

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Results 21 - 40 of 101  for All Library Resources

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