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Material Type: Article
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Deubiquitylases in developmental ubiquitin signaling and congenital diseasesCell death and differentiation, 2021-02, Vol.28 (2), p.538-556 [Peer Reviewed Journal]This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 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. ;This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020 ;ISSN: 1350-9047 ;EISSN: 1476-5403 ;DOI: 10.1038/s41418-020-00697-5 ;PMID: 33335288Full text available |
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Material Type: Article
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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular MechanismsInternational journal of molecular sciences, 2021-01, Vol.22 (2), p.911 [Peer Reviewed Journal]2021. 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. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22020911 ;PMID: 33477564Full text available |
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3 |
Material Type: Article
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Some congenital diseases may just show up laterJournal of clinical sleep medicine, 2020-11, Vol.16 (11), p.1835-18362020 American Academy of Sleep Medicine 2020 ;ISSN: 1550-9389 ;EISSN: 1550-9397 ;DOI: 10.5664/jcsm.8850 ;PMID: 32990200Full text available |
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4 |
Material Type: Article
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Some properties of three αB-crystallin mutants carrying point substitutions in the C-terminal domain and associated with congenital diseasesBiochimie, 2017-11, Vol.142, p.168 [Peer Reviewed Journal]Copyright © 2017 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM). All rights reserved. ;EISSN: 1638-6183 ;DOI: 10.1016/j.biochi.2017.09.008 ;PMID: 28919577Digital Resources/Online E-Resources |
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5 |
Material Type: Article
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Bone fragility in patients affected by congenital diseases non skeletal in originOrphanet journal of rare diseases, 2021-01, Vol.16 (1), p.11-11, Article 11 [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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01611-5 ;PMID: 33407701Full text available |
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6 |
Material Type: Article
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Mutations of small heat shock proteins and human congenital diseasesBiochemistry (Moscow), 2012-12, Vol.77 (13), p.1500-1514 [Peer Reviewed Journal]Pleiades Publishing, Ltd. 2012 ;COPYRIGHT 2012 Springer ;ISSN: 0006-2979 ;EISSN: 1608-3040 ;DOI: 10.1134/S0006297912130081 ;PMID: 23379525Full text available |
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7 |
Material Type: Article
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The Role of Splicing Factor SF3B4 in Congenital Diseases and TumorsDiscovery medicine, 2021-11, Vol.32 (167), p.123 [Peer Reviewed Journal]EISSN: 1944-7930 ;PMID: 35220998Digital Resources/Online E-Resources |
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8 |
Material Type: Article
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1017 Unusual clinical course of congenital central hypoventilation syndrome: is outgrowing the syndrome possible?Sleep (New York, N.Y.), 2019-04, Vol.42 (Supplement_1), p.A409-A410 [Peer Reviewed Journal]Sleep Research Society 2019. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com. ;ISSN: 0161-8105 ;EISSN: 1550-9109 ;DOI: 10.1093/sleep/zsz069.1014Full text available |
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9 |
Material Type: Article
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Congenital diseases of the gastrointestinal tractGeorgian medical news, 2014-05 (230), p.46-53 [Peer Reviewed Journal]ISSN: 1512-0112 ;PMID: 24940857Full text available |
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10 |
Material Type: Article
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Roles of FGF receptors in mammalian development and congenital diseasesBirth defects research. Part C. Embryo today, 2003-12, Vol.69 (4), p.286-304 [Peer Reviewed Journal]Published 2003 Wiley‐Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1542-975X ;EISSN: 1542-9768 ;DOI: 10.1002/bdrc.10025 ;PMID: 14745970Full text available |
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11 |
Material Type: Article
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BS26 The partnerships in congenital heart disease in africa study (PROTEA): clinical characteristics and genetic findings from a South African congenital heart disease cohortHeart (British Cardiac Society), 2021-06, Vol.107 (Suppl 1), p.A170-A171 [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-2021-BCS.224Full text available |
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Material Type: Article
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Neutrophils as emerging therapeutic targetsNature reviews. Drug discovery, 2020-04, Vol.19 (4), p.253-275 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-1776 ;EISSN: 1474-1784 ;DOI: 10.1038/s41573-019-0054-z ;PMID: 31969717Full text available |
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13 |
Material Type: Article
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102 Exome Sequencing Identifies Novel Molecular Determinants of Human Congenital HydrocephalusNeurosurgery, 2017-09, Vol.64 (CN_suppl_1), p.220-220 [Peer Reviewed Journal]Copyright © 2017 by the Congress of Neurological Surgeons 2017 ;Copyright © by the Congress of Neurological Surgeons ;Copyright © 2017 Congress of Neurological Surgeons ;ISSN: 0148-396X ;EISSN: 1524-4040 ;DOI: 10.1093/neuros/nyx417.102Full text available |
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14 |
Material Type: Article
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP GuidelinesAmerican journal of human genetics, 2017-02, Vol.100 (2), p.267-280 [Peer Reviewed Journal]2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 2, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.004 ;PMID: 28132688Full text available |
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Material Type: Article
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Muscular dystrophiesThe Lancet (British edition), 2019-11, Vol.394 (10213), p.2025-2038 [Peer Reviewed Journal]2019 Elsevier Ltd ;Copyright © 2019 Elsevier Ltd. All rights reserved. ;2019. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(19)32910-1 ;PMID: 31789220Full text available |
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16 |
Material Type: Article
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyThe New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261 [Peer Reviewed Journal]Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1909786Full text available |
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17 |
Material Type: Article
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Genetics and Genomics of Congenital Heart DiseaseCirculation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740Full text available |
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18 |
Material Type: Article
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Pulmonary Arterial HypertensionThe New England journal of medicine, 2021-12, Vol.385 (25), p.2361-2376 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;COPYRIGHT 2021 Massachusetts Medical Society ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2000348 ;PMID: 34910865Full text available |
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19 |
Material Type: Article
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Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital HydrocephalusNeurosurgery, 2020-12, Vol.67 (Supplement_1) [Peer Reviewed Journal]Copyright © 2020 by the Congress of Neurological Surgeons 2020 ;Copyright © 2020 by the Congress of Neurological Surgeons ;ISSN: 0148-396X ;EISSN: 1524-4040 ;DOI: 10.1093/neuros/nyaa447_572Full text available |
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20 |
Material Type: Article
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108. ADDITIONAL PATHOGENIC IRF6 MUTATIONS IN VAN DER WOUDE SYNDROME FROM SUB-SAHARAN AFRICAN POPULATIONSThe Cleft palate-craniofacial journal, 2016-07, Vol.53 (4), p.E127 [Peer Reviewed Journal]Copyright Allen Press Publishing Services Jul 2016 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;CODEN: CPJOEGFull text available |