Results 1 - 20 of 6,196 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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The telomere syndromesNature reviews. Genetics, 2012-10, Vol.13 (10), p.693-704 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2012 ;2012 Macmillan Publishers Limited. All rights reserved 2012 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg3246 ;PMID: 22965356Full text available |
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNature genetics, 2010-09, Vol.42 (9), p.790-793 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.646 ;PMID: 20711175 ;CODEN: NGENECFull text available |
| 3 |
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Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical DiseaseAmerican journal of respiratory and critical care medicine, 2013-10, Vol.188 (8), p.913-922 [Peer Reviewed Journal]2014 INIST-CNRS ;Copyright American Thoracic Society Oct 15, 2013 ;Copyright © 2013 by the American Thoracic Society 2013 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201301-0059ci ;PMID: 23796196Full text available |
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesNature genetics, 2012-08, Vol.44 (8), p.934-940 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2331 ;PMID: 22729224 ;CODEN: NGENECFull text available |
| 5 |
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A Mosaic Activating Mutation in AKT1 Associated with the Proteus SyndromeThe New England journal of medicine, 2011-08, Vol.365 (7), p.611-619 [Peer Reviewed Journal]Copyright © 2011 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2011 Massachusetts Medical Society. 2011 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1104017 ;PMID: 21793738 ;CODEN: NEJMAGFull text available |
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Diagnosis and management of primary ciliary dyskinesiaArchives of Disease in Childhood, 2014-09, Vol.99 (9), p.850-856 [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://group.bmj.com/group/rights-licensing/permissions ;2015 INIST-CNRS ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Copyright: 2014 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions 2014 ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2013-304831 ;PMID: 24771309 ;CODEN: ADCHAKFull text available |
| 7 |
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Petilla terminology: nomenclature of features of GABAergic interneurons of the cerebral cortexNature reviews. Neuroscience, 2008-07, Vol.9 (7), p.557-568 [Peer Reviewed Journal]2008 INIST-CNRS ;COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2008 ;Distributed under a Creative Commons Attribution 4.0 International License ;2008 Macmillan Publishers Limited. All rights reserved. 2008 ;ISSN: 1471-003X ;EISSN: 1471-0048 ;DOI: 10.1038/nrn2402 ;PMID: 18568015Full text available |
| 8 |
Material Type: Article
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesiaThe European respiratory journal, 2014-12, Vol.44 (6), p.1579-1588 [Peer Reviewed Journal]2015 INIST-CNRS ;ERS 2014. ;ISSN: 0903-1936 ;EISSN: 1399-3003 ;DOI: 10.1183/09031936.00052014 ;PMID: 25186273Full text available |
| 9 |
Material Type: Article
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeNature genetics, 2012-04, Vol.44 (4), p.435-439 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2012 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1083 ;PMID: 22366785 ;CODEN: NGENECFull text available |
| 10 |
Material Type: Article
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De novo mutations of SETBP1 cause Schinzel-Giedion syndromeNature genetics, 2010-06, Vol.42 (6), p.483-485 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.581 ;PMID: 20436468 ;CODEN: NGENECFull text available |
| 11 |
Material Type: Article
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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary PhenotypeAmerican journal of respiratory and critical care medicine, 2014-03, Vol.189 (6), p.707-717 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright American Thoracic Society Mar 15, 2014 ;Published 2014 by the American Thoracic Society 2014 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201311-2047OC ;PMID: 24568568Full text available |
| 12 |
Material Type: Article
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein armsNature genetics, 2012-06, Vol.44 (6), p.714-719 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2012 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2277 ;PMID: 22581229 ;CODEN: NGENECFull text available |
| 13 |
Material Type: Article
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body AsymmetryAmerican journal of human genetics, 2012-10, Vol.91 (4), p.672-684 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Oct 5, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.08.016 ;PMID: 23022101 ;CODEN: AJHGAGFull text available |
| 14 |
Material Type: Article
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeNature genetics, 2012-04, Vol.44 (4), p.440-444 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2012 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1091 ;PMID: 22366783 ;CODEN: NGENECFull text available |
| 15 |
Material Type: Article
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Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in childrenThe European respiratory journal, 2009-12, Vol.34 (6), p.1264-1276 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0903-1936 ;EISSN: 1399-3003 ;DOI: 10.1183/09031936.00176608 ;PMID: 19948909Full text available |
| 16 |
Material Type: Article
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Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1Nature genetics, 2012-06, Vol.44 (6), p.699-703 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2012 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2263 ;PMID: 22561515 ;CODEN: NGENECFull text available |
| 17 |
Material Type: Article
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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeNature genetics, 2011-08, Vol.43 (8), p.735-737 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;COPYRIGHT 2011 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.885 ;PMID: 21765411 ;CODEN: NGENECFull text available |
| 18 |
Material Type: Article
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Mutations in NBEAL2 , encoding a BEACH protein, cause gray platelet syndromeNature genetics, 2011-08, Vol.43 (8), p.738-740 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2011 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.884 ;PMID: 21765413 ;CODEN: NGENECFull text available |
| 19 |
Material Type: Article
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β-Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram SyndromeDiabetes (New York, N.Y.), 2014-03, Vol.63 (3), p.923-933 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2014 American Diabetes Association ;2014 by the American Diabetes Association. 2014 ;ISSN: 0012-1797 ;EISSN: 1939-327X ;DOI: 10.2337/db13-0717 ;PMID: 24227685 ;CODEN: DIAEAZFull text available |
| 20 |
Material Type: Article
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Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1Nature genetics, 2011-10, Vol.43 (11), p.1139-1141 [Peer Reviewed Journal]2015 INIST-CNRS ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.960 ;PMID: 22001756 ;CODEN: NGENECFull text available |
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