Results 1 - 20 of 2,397 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQThe New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAGFull text available |
| 2 |
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Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES SyndromeAmerican journal of human genetics, 2012-06, Vol.90 (6), p.1108-1115 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 8, 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.2012.05.006 ;PMID: 22658544 ;CODEN: AJHGAGFull text available |
| 3 |
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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 |
| 4 |
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Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human DiseaseAmerican journal of human genetics, 2012-02, Vol.90 (2), p.175-200 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 10, 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.2011.12.017 ;PMID: 22325359 ;CODEN: AJHGAGFull text available |
| 5 |
Material Type: Article
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb AnomaliesAmerican journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Peer Reviewed Journal]2011 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 13, 2011 ;2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.04.013 ;PMID: 21565291 ;CODEN: AJHGAGFull text available |
| 6 |
Material Type: Article
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Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004Clinical infectious diseases, 2010-06, Vol.50 (11), p.1439-1447 [Peer Reviewed Journal]2010 Infectious Diseases Society of America ;2010 Infectious Diseases Society of America 2010 ;2015 INIST-CNRS ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIELFull text available |
| 7 |
Material Type: Article
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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted SyndromeAmerican journal of human genetics, 2012-03, Vol.90 (3), p.558-564 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 9, 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.2012.02.006 ;PMID: 22405088 ;CODEN: AJHGAGFull text available |
| 8 |
Material Type: Article
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart DiseaseAmerican journal of human genetics, 2012-09, Vol.91 (3), p.489-501 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 7, 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.2012.08.003 ;PMID: 22939634 ;CODEN: AJHGAGFull text available |
| 9 |
Material Type: Article
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Integrin α3 Mutations with Kidney, Lung, and Skin DiseaseThe New England journal of medicine, 2012-04, Vol.366 (16), p.1508-1514 [Peer Reviewed Journal]Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1110813 ;PMID: 22512483 ;CODEN: NEJMAGFull text available |
| 10 |
Material Type: Article
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Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac outputJAMA : the journal of the American Medical Association, 2012-03, Vol.307 (9), p.948 [Peer Reviewed Journal]EISSN: 1538-3598 ;DOI: 10.1001/jama.2012.250 ;PMID: 22396517Digital Resources/Online E-Resources |
| 11 |
Material Type: Article
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TMEM165 Deficiency Causes a Congenital Disorder of GlycosylationAmerican journal of human genetics, 2012-07, Vol.91 (1), p.15-26 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 13, 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.2012.05.002 ;PMID: 22683087 ;CODEN: AJHGAGFull text available |
| 12 |
Material Type: Article
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Circadian rhythms govern cardiac repolarization and arrhythmogenesisNature (London), 2012-02, Vol.483 (7387), p.96-99 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 1, 2012 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature10852 ;PMID: 22367544 ;CODEN: NATUASFull text available |
| 13 |
Material Type: Article
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An SCN9A channelopathy causes congenital inability to experience painNature, 2006-12, Vol.444 (7121), p.894-898 [Peer Reviewed Journal]2007 INIST-CNRS ;COPYRIGHT 2006 Nature Publishing Group ;COPYRIGHT 2006 Nature Publishing Group ;Copyright Nature Publishing Group Dec 14, 2006 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature05413 ;PMID: 17167479 ;CODEN: NATUASFull text available |
| 14 |
Material Type: Article
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Abnormal Brain Development in Newborns with Congenital Heart DiseaseThe New England journal of medicine, 2007-11, Vol.357 (19), p.1928-1938 [Peer Reviewed Journal]Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;2007 INIST-CNRS ;Copyright 2007 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa067393 ;PMID: 17989385 ;CODEN: NEJMAGFull text available |
| 15 |
Material Type: Article
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New vascular classification of port-wine stains: improving prediction of Sturge-Weber riskBritish journal of dermatology (1951), 2014-10, Vol.171 (4), p.861-867 [Peer Reviewed Journal]The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;2015 INIST-CNRS ;The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;Copyright © 2014 British Association of Dermatologists ;The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. 2014 ;ISSN: 0007-0963 ;EISSN: 1365-2133 ;DOI: 10.1111/bjd.13203 ;PMID: 24976116 ;CODEN: BJDEAZFull text available |
| 16 |
Material Type: Article
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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairJournal of medical genetics, 2011-03, Vol.48 (3), p.168-176 [Peer Reviewed Journal]2011, 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 ;Copyright: 2011 (c) 2011, 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. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.083022 ;PMID: 21097776 ;CODEN: JMDGAEFull text available |
| 17 |
Material Type: Article
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24Nature genetics, 2009-04, Vol.41 (4), p.473-477 [Peer Reviewed Journal]2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.333 ;PMID: 19270707 ;CODEN: NGENECFull text available |
| 18 |
Material Type: Article
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humansNature genetics, 2012-02, Vol.44 (2), p.140-147 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1056 ;PMID: 22246504 ;CODEN: NGENECFull text available |
| 19 |
Material Type: Article
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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete AchromatopsiaAmerican journal of human genetics, 2012-09, Vol.91 (3), p.527-532 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 7, 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.2012.07.006 ;PMID: 22901948 ;CODEN: AJHGAGFull text available |
| 20 |
Material Type: Article
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other MalformationsAmerican journal of human genetics, 2009-06, Vol.84 (6), p.780-791 [Peer Reviewed Journal]2009 The American Society of Human Genetics ;2009 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 12, 2009 ;2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2009 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2009.05.005 ;PMID: 19500772 ;CODEN: AJHGAGFull text available |
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