Results 1 - 20 of 22,381 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Telomeres and telomerase: three decades of progressNature reviews. Genetics, 2019-05, Vol.20 (5), p.299-309 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-019-0099-1 ;PMID: 30760854Full text available |
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Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunityHuman molecular genetics, 2009-10, Vol.18 (R2), p.R130-R136 [Peer Reviewed Journal]2009 INIST-CNRS ;The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddp293 ;PMID: 19808788Full text available |
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Kabuki syndrome: international consensus diagnostic criteriaJournal of medical genetics, 2019-02, Vol.56 (2), p.89-95 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105625 ;PMID: 30514738Full text available |
| 4 |
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VACTERL/VATER AssociationOrphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56 [Peer Reviewed Journal]COPYRIGHT 2011 BioMed Central Ltd. ;COPYRIGHT 2011 BioMed Central Ltd. ;Copyright ©2011 Solomon; licensee BioMed Central Ltd. 2011 Solomon; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-6-56 ;PMID: 21846383Full text available |
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Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in miceNature communications, 2022-02, Vol.13 (1), p.931-931, Article 931 [Peer Reviewed Journal]2022. The Author(s). ;The Author(s) 2022. corrected publication 2022. 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) 2022, corrected publication 2022 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-022-28613-0 ;PMID: 35177641Full text available |
| 6 |
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The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migrationHuman molecular genetics, 2020-01, Vol.29 (2), p.305-319 [Peer Reviewed Journal]The Author(s) 2019. Published by Oxford University Press. 2019 ;The Author(s) 2019. Published by Oxford University Press. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddz284 ;PMID: 31813957Full text available |
| 7 |
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FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal DevelopmentAmerican journal of human genetics, 2013-06, Vol.92 (6), p.990-995 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 6, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.04.020 ;PMID: 23684011Full text available |
| 8 |
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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapiesHuman molecular genetics, 2017-12, Vol.26 (23), p.4657-4667 [Peer Reviewed Journal]The Author 2017. Published by Oxford University Press. ;The Author 2017. Published by Oxford University Press. 2017 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddx347 ;PMID: 28973549Full text available |
| 9 |
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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndromeNature cell biology, 2017-10, Vol.19 (10), p.1178-1188 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2017 ;ISSN: 1465-7392 ;EISSN: 1476-4679 ;DOI: 10.1038/ncb3599 ;PMID: 28846093Full text available |
| 10 |
Material Type: Article
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Regulation of RAF protein kinases in ERK signallingNature reviews. Molecular cell biology, 2015-05, Vol.16 (5), p.281-298 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 2015 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm3979 ;PMID: 25907612Full text available |
| 11 |
Material Type: Article
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Malformation syndromes caused by disorders of cholesterol synthesisJournal of lipid research, 2011-01, Vol.52 (1), p.6-34 [Peer Reviewed Journal]2011 © 2011 ASBMB. Currently published by Elsevier Inc; originally published by American Society for Biochemistry and Molecular Biology. ;ISSN: 0022-2275 ;EISSN: 1539-7262 ;DOI: 10.1194/jlr.R009548 ;PMID: 20929975Full text available |
| 12 |
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Prospective Evaluation of Kidney Disease in Joubert SyndromeClinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973 [Peer Reviewed Journal]Copyright © 2017 by the American Society of Nephrology. ;Copyright © 2017 by the American Society of Nephrology 2017 ;ISSN: 1555-9041 ;EISSN: 1555-905X ;DOI: 10.2215/cjn.05660517 ;PMID: 29146704Full text available |
| 13 |
Material Type: Article
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerGenetics in medicine, 2017-08, Vol.19 (8), p.875-882 [Peer Reviewed Journal]Copyright Nature Publishing Group Aug 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.204 ;PMID: 28125082Full text available |
| 14 |
Material Type: Article
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Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrheaHuman molecular genetics, 2015-12, Vol.24 (23), p.6614-6623 [Peer Reviewed Journal]The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2015 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddv367 ;PMID: 26358773Full text available |
| 15 |
Material Type: Article
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGenetics in medicine, 2014-10, Vol.16 (10), p.751-758 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2014. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2014.22 ;PMID: 24651605Full text available |
| 16 |
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Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1 S858R Schinzel Giedion Syndrome miceJournal of cellular and molecular medicine, 2023-11, Vol.27 (22), p.3565-3577 [Peer Reviewed Journal]2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.18001 ;PMID: 37872881Full text available |
| 17 |
Material Type: Article
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Vascular Anomalies (Part I): Classification and Diagnostics of Vascular AnomaliesRöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren, 2018-09, Vol.190 (9), p.825-835 [Peer Reviewed Journal]ISSN: 1438-9029 ;EISSN: 1438-9010 ;DOI: 10.1055/a-0620-8925Digital Resources/Online E-Resources |
| 18 |
Material Type: Article
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyEuropean journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.266-273 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.156 ;PMID: 22872100Full text available |
| 19 |
Material Type: Article
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An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and ManagementAmerican journal of respiratory and critical care medicine, 2010-03, Vol.181 (6), p.626-644 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright American Thoracic Society Mar 15, 2010 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.200807-1069ST ;PMID: 20208042Full text available |
| 20 |
Material Type: Article
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ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndromeHuman molecular genetics, 2023-04, Vol.32 (9), p.1429-1438 [Peer Reviewed Journal]The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2022 ;The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddac289 ;PMID: 36440975Full text available |
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