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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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 |
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2 |
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 |
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3 |
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 |
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4 |
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 |
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5 |
Material Type: Article
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Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypesAnnals of the rheumatic diseases, 2011-12, Vol.70 (12), p.2095-2102 [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 ;Copyright: 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: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/ard.2011.152728 ;PMID: 21859692 ;CODEN: ARDIAOFull text available |
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6 |
Material Type: Article
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Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN MutationsJournal of clinical oncology, 2014-06, Vol.32 (17), p.1818-1824 [Peer Reviewed Journal]2015 INIST-CNRS ;2014 by American Society of Clinical Oncology. ;2014 by American Society of Clinical Oncology 2014 ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.2013.53.6656 ;PMID: 24778394Full text available |
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7 |
Material Type: Article
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The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shapeHeart (British Cardiac Society), 2008-12, Vol.94 (12), p.1634-1638 [Peer Reviewed Journal]2008 BMJ Publishing Group and British Cardiac Society ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group and British Cardiac Society ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2007.132092 ;PMID: 18308868Full text available |
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8 |
Material Type: Article
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndromeJournal of medical genetics, 2012-01, Vol.49 (1), p.47-57 [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 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2011-100382 ;PMID: 22167769 ;CODEN: JMDGAEFull text available |
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9 |
Material Type: Article
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Social Burden and Lifestyle in Adults With Congenital Heart DiseaseThe American journal of cardiology, 2012-06, Vol.109 (11), p.1657-1663 [Peer Reviewed Journal]Elsevier Inc. ;2012 Elsevier Inc. ;2015 INIST-CNRS ;Copyright © 2012 Elsevier Inc. All rights reserved. ;Copyright Elsevier Sequoia S.A. Jun 1, 2012 ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2012.01.397 ;PMID: 22444325 ;CODEN: AJCDAGDigital Resources/Online E-Resources |
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10 |
Material Type: Article
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Identification of a Kir3.4 Mutation in Congenital Long QT SyndromeAmerican journal of human genetics, 2010-06, Vol.86 (6), p.872-880 [Peer Reviewed Journal]2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 11, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.017 ;PMID: 20560207 ;CODEN: AJHGAGFull text available |
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11 |
Material Type: Article
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An epistaxis severity score for hereditary hemorrhagic telangiectasiaThe Laryngoscope, 2010-04, Vol.120 (4), p.838-843 [Peer Reviewed Journal]Copyright © 2010 The American Laryngological, Rhinological, and Otological Society, Inc. ;2015 INIST-CNRS ;ISSN: 0023-852X ;EISSN: 1531-4995 ;DOI: 10.1002/lary.20818 ;PMID: 20087969 ;CODEN: LARYA8Full text available |
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12 |
Material Type: Article
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Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancerThe Journal of urology, 2013-12, Vol.190 (6), p.1990 [Peer Reviewed Journal]Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved. ;EISSN: 1527-3792 ;DOI: 10.1016/j.juro.2013.06.012 ;PMID: 23764071Digital Resources/Online E-Resources |
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13 |
Material Type: Article
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeAmerican journal of human genetics, 2007-02, Vol.80 (2), p.232-240 [Peer Reviewed Journal]2006 The American Society of Human Genetics ;2007 INIST-CNRS ;Copyright University of Chicago, acting through its Press Feb 2007 ;2006 by The American Society of Human Genetics. All rights reserved. 2006 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/510919 ;PMID: 17236129 ;CODEN: AJHGAGFull text available |
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14 |
Material Type: Article
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumorsNature genetics, 2009-11, Vol.41 (11), p.1247-1252 [Peer Reviewed Journal]2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.470 ;PMID: 19855393 ;CODEN: NGENECFull text available |
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15 |
Material Type: Article
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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsJournal of medical genetics, 2008-10, Vol.45 (10), p.609-621 [Peer Reviewed Journal]2008 BMJ Publishing Group ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2008.058743 ;PMID: 18603627 ;CODEN: JMDGAEFull text available |
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16 |
Material Type: Article
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Burden of Coronary Artery Disease in Adults With Congenital Heart Disease and Its Relation to Congenital and Traditional Heart Risk FactorsThe American journal of cardiology, 2009-05, Vol.103 (10), p.1445-1450 [Peer Reviewed Journal]Elsevier Inc. ;2009 Elsevier Inc. ;2009 INIST-CNRS ;Copyright Elsevier Sequoia S.A. May 15, 2009 ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2009.01.353 ;PMID: 19427444 ;CODEN: AJCDAGDigital Resources/Online E-Resources |
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17 |
Material Type: Article
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Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis CongenitaAmerican journal of human genetics, 2012-03, Vol.90 (3), p.426-433 [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.2012.01.004 ;PMID: 22341970 ;CODEN: AJHGAGFull text available |
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18 |
Material Type: Article
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Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like SyndromesAmerican journal of human genetics, 2008-08, Vol.83 (2), p.261-268 [Peer Reviewed Journal]2008 The American Society of Human Genetics ;2008 INIST-CNRS ;Copyright University of Chicago, acting through its Press Aug 8, 2008 ;2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2008.07.011 ;PMID: 18678321 ;CODEN: AJHGAGFull text available |
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19 |
Material Type: Article
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The emerging burden of hospital admissions of adults with congenital heart diseaseHeart (British Cardiac Society), 2010-06, Vol.96 (11), p.872-878 [Peer Reviewed Journal]2010, 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: 2010 (c) 2010, 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: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2009.185595 ;PMID: 20406765Full text available |
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20 |
Material Type: Article
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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutationEuropean journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.870-874 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Aug 2011 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.37 ;PMID: 21407260Full text available |