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subject: Disease Models, Animal

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1	Material Type: Article	Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy American journal of human genetics, 2017-03, Vol.100 (3), p.537-545 [Peer Reviewed Journal] 2017 ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.019 ;PMID: 28190459 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain PloS one, 2014-09, Vol.9 (9), p.e105895-e105895 [Peer Reviewed Journal] COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Gingras 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. ;2014 Gingras et al 2014 Gingras et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0105895 ;PMID: 25188265 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Attenuation of congenital portosystemic shunt reduces inflammation in dogs PloS one, 2015-02, Vol.10 (2), p.e0117557-e0117557 [Peer Reviewed Journal] COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Tivers 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 Tivers et al 2015 Tivers et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0117557 ;PMID: 25658922 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	The duality of human oncoproteins: drivers of cancer and congenital disorders Nature reviews. Cancer, 2020-07, Vol.20 (7), p.383-397 [Peer Reviewed Journal] COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-175X ;EISSN: 1474-1768 ;DOI: 10.1038/s41568-020-0256-z ;PMID: 32341551 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	A role for TENM1 mutations in congenital general anosmia Clinical genetics, 2016-09, Vol.90 (3), p.211-219 [Peer Reviewed Journal] 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12782 ;PMID: 27040985 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications Journal of Medical Genetics, 2016-02, Vol.53 (2), p.73-90 [Peer Reviewed Journal] Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2015-103366 ;PMID: 26502893 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	The emergence of Zika virus and its new clinical syndromes Nature (London), 2018-08, Vol.560 (7720), p.573-581 [Peer Reviewed Journal] COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Aug 30, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0446-y ;PMID: 30158602 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Congenital lipodystrophy induces severe osteosclerosis PLoS genetics, 2019-06, Vol.15 (6), p.e1008244-e1008244 [Peer Reviewed Journal] COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Zou 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. ;2019 Zou et al 2019 Zou et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008244 ;PMID: 31233501 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein PLoS genetics, 2017-07, Vol.13 (7), p.e1006936-e1006936 [Peer Reviewed Journal] COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet 13(7): e1006936. https://doi.org/10.1371/journal.pgen.1006936 ;2017 Scott et al 2017 Scott et al ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet 13(7): e1006936. https://doi.org/10.1371/journal.pgen.1006936 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1006936 ;PMID: 28753627 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB) PloS one, 2014-03, Vol.9 (3), p.e90342-e90342 [Peer Reviewed Journal] COPYRIGHT 2014 Public Library of Science ;2014 Neuillé 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. ;Attribution ;2014 Neuillé et al 2014 Neuillé et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0090342 ;PMID: 24598786 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway Nature communications, 2020-01, Vol.11 (1), p.479-479, Article 479 [Peer Reviewed Journal] 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) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-14169-z ;PMID: 31980602 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Sirt1 promotes autophagy and inhibits apoptosis to protect cardiomyocytes from hypoxic stress International journal of molecular medicine, 2019-05, Vol.43 (5), p.2033-2043 COPYRIGHT 2019 Spandidos Publications ;Copyright: © Luo et al. 2019 ;ISSN: 1107-3756 ;EISSN: 1791-244X ;DOI: 10.3892/ijmm.2019.4125 ;PMID: 30864731 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Mechanisms of renal injury and progression of renal disease in congenital obstructive nephropathy Pediatric nephrology (Berlin, West), 2010-04, Vol.25 (4), p.687-697 [Peer Reviewed Journal] IPNA 2009 ;COPYRIGHT 2010 Springer ;IPNA 2010 ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-009-1316-5 ;PMID: 19844747 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice Nature medicine, 2012-01, Vol.18 (1), p.71-73 [Peer Reviewed Journal] COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2012 ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/nm.2548 ;PMID: 22157680 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Disruption of PIKFYVE causes congenital cataract in human and zebrafish eLife, 2022-01, Vol.11 [Peer Reviewed Journal] 2022, Mei et al. ;COPYRIGHT 2022 eLife Science Publications, Ltd. ;2022, Mei et al. This work is published under https://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. ;2022, Mei et al 2022 Mei et al ;ISSN: 2050-084X ;EISSN: 2050-084X ;DOI: 10.7554/elife.71256 ;PMID: 35023829 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis PloS one, 2013-11, Vol.8 (11), p.e79369-e79369 [Peer Reviewed Journal] COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Garanto 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, 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. ;2013 Garanto et al 2013 Garanto et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0079369 ;PMID: 24223178 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies International journal of molecular sciences, 2020-11, Vol.21 (23), p.8935 [Peer Reviewed Journal] 2020. 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. ;2020 by the authors. 2020 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms21238935 ;PMID: 33255644 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes Journal of cell science, 2017-11, Vol.130 (21), p.3637-3649 [Peer Reviewed Journal] 2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd Nov 1, 2017 ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 0021-9533 ;EISSN: 1477-9137 ;DOI: 10.1242/jcs.209049 ;PMID: 28883096 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Maternal CD4⁺ T cells protect against severe congenital cytomegalovirus disease in a novel nonhuman primate model of placental cytomegalovirus transmission Proceedings of the National Academy of Sciences - PNAS, 2015-11, Vol.112 (44), p.13645-13650 [Peer Reviewed Journal] Volumes 1–89 and 106–112, copyright as a collective work only; author(s) retains copyright to individual articles ;Copyright National Academy of Sciences Nov 3, 2015 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1511526112 ;PMID: 26483473 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts PloS one, 2015-09, Vol.10 (9), p.e0137973-e0137973 [Peer Reviewed Journal] COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”) Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0137973 ;PMID: 26402864 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 44,459 for All Library Resources

2017 ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.019 ;PMID: 28190459

COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-175X ;EISSN: 1474-1768 ;DOI: 10.1038/s41568-020-0256-z ;PMID: 32341551

2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12782 ;PMID: 27040985

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Aug 30, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0446-y ;PMID: 30158602

COPYRIGHT 2019 Spandidos Publications ;Copyright: © Luo et al. 2019 ;ISSN: 1107-3756 ;EISSN: 1791-244X ;DOI: 10.3892/ijmm.2019.4125 ;PMID: 30864731

IPNA 2009 ;COPYRIGHT 2010 Springer ;IPNA 2010 ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-009-1316-5 ;PMID: 19844747

COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2012 ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/nm.2548 ;PMID: 22157680

2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd Nov 1, 2017 ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 0021-9533 ;EISSN: 1477-9137 ;DOI: 10.1242/jcs.209049 ;PMID: 28883096

Volumes 1–89 and 106–112, copyright as a collective work only; author(s) retains copyright to individual articles ;Copyright National Academy of Sciences Nov 3, 2015 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1511526112 ;PMID: 26483473

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