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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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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Placentation defects are highly prevalent in embryonic lethal mouse mutantsNature (London), 2018-03, Vol.555 (7697), p.463-468 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 22, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature26002 ;PMID: 29539633Full text available |
| 3 |
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysisOrphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Peer Reviewed Journal]COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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. ;Attribution ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01430-8 ;PMID: 32503598Full text available |
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsNature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257Full text available |
| 5 |
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Congenital myopathies: disorders of excitation-contraction coupling and muscle contractionNature reviews. Neurology, 2018-03, Vol.14 (3), p.151-167 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2018 ;ISSN: 1759-4758 ;EISSN: 1759-4766 ;DOI: 10.1038/nrneurol.2017.191 ;PMID: 29391587Full text available |
| 6 |
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The role of thyroglobulin in thyroid hormonogenesisNature reviews. Endocrinology, 2019-06, Vol.15 (6), p.323-338 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1759-5029 ;EISSN: 1759-5037 ;DOI: 10.1038/s41574-019-0184-8 ;PMID: 30886364Full text available |
| 7 |
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK PathwayEndocrine reviews, 2018-10, Vol.39 (5), p.676-700 [Peer Reviewed Journal]Copyright © 2018 Endocrine Society 2018 ;Copyright © Oxford University Press 2015 ;COPYRIGHT 2018 Oxford University Press ;Copyright © 2018 Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2017-00232 ;PMID: 29924299Full text available |
| 8 |
Material Type: Article
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Global genetic analysis in mice unveils central role for cilia in congenital heart diseaseNature (London), 2015-05, Vol.521 (7553), p.520-524 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14269 ;PMID: 25807483 ;CODEN: NATUASFull text available |
| 9 |
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingNature genetics, 2016-09, Vol.48 (9), p.1060-1065 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3627 ;PMID: 27479907Full text available |
| 10 |
Material Type: Article
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Gene therapy and genome surgery in the retinaThe Journal of clinical investigation, 2018-06, Vol.128 (6), p.2177-2188 [Peer Reviewed Journal]COPYRIGHT 2018 American Society for Clinical Investigation ;COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jun 2018 ;Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI120429 ;PMID: 29856367Full text available |
| 11 |
Material Type: Article
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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyThe Journal of clinical investigation, 2018-04, Vol.128 (4), p.1496-1508 [Peer Reviewed Journal]COPYRIGHT 2018 American Society for Clinical Investigation ;COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Apr 2018 ;Copyright © 2018 Al-Olabi et al. 2018 Al-Olabi et al. ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci98589 ;PMID: 29461977Full text available |
| 12 |
Material Type: Article
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortGenome Biology, 2016-11, Vol.17 (1), p.243-243, Article 243 [Peer Reviewed Journal]2016. 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). 2016 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-016-1105-y ;PMID: 27899157Full text available |
| 13 |
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The complex genetics of hypoplastic left heart syndromeNature genetics, 2017-07, Vol.49 (7), p.1152-1159 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3870 ;PMID: 28530678Full text available |
| 14 |
Material Type: Article
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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalusNature medicine, 2020-11, Vol.26 (11), p.1754-1765 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-020-1090-2 ;PMID: 33077954Full text available |
| 15 |
Material Type: Article
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Developmental genetics of vertebrate glial-cell specificationNature (London), 2010-11, Vol.468 (7321), p.214-222 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Nov 11, 2010 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09611 ;PMID: 21068830 ;CODEN: NATUASFull text available |
| 16 |
Material Type: Article
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Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activityThe Journal of clinical investigation, 2017-06, Vol.127 (6), p.2407-2417 [Peer Reviewed Journal]COPYRIGHT 2017 American Society for Clinical Investigation ;COPYRIGHT 2017 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jun 2017 ;Copyright © 2017, American Society for Clinical Investigation 2017 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci90896 ;PMID: 28481222Full text available |
| 17 |
Material Type: Article
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Genetic basis of human congenital anomalies of the kidney and urinary tractThe Journal of clinical investigation, 2018-01, Vol.128 (1), p.4-15 [Peer Reviewed Journal]COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jan 2018 ;Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci95300 ;PMID: 29293093Full text available |
| 18 |
Material Type: Article
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Multiple Phenotypes in Phosphoglucomutase 1 DeficiencyThe New England journal of medicine, 2014-02, Vol.370 (6), p.533-542 [Peer Reviewed Journal]Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2014 Massachusetts Medical Society. 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1206605 ;PMID: 24499211 ;CODEN: NEJMAGFull text available |
| 19 |
Material Type: Article
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A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestationsOrphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-306, Article 306 [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/s13023-021-01929-8 ;PMID: 34238334Full text available |
| 20 |
Material Type: Article
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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersPLoS genetics, 2018-12, Vol.14 (12), p.e1007822-e1007822 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 Qi 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. ;2018 Qi et al 2018 Qi et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007822 ;PMID: 30532227Full text available |
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