Results 1 - 20 of 3,033 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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| 1 |
Material Type: Article
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The developmental genetics of congenital heart diseaseNature, 2008-02, Vol.451 (7181), p.943-948 [Peer Reviewed Journal]COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Feb 21, 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature06801 ;PMID: 18288184 ;CODEN: NATUASFull text available |
| 2 |
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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 |
| 3 |
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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 |
| 4 |
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Seroprevalence of Cytomegalovirus Infection in the United States, 1988–1994Clinical infectious diseases, 2006-11, Vol.43 (9), p.1143-1151 [Peer Reviewed Journal]Copyright 2006 The Infectious Diseases Society of America ;2006 Infectious Diseases Society of America 2006 ;Copyright University of Chicago, acting through its Press Nov 1, 2006 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/508173 ;PMID: 17029132Full text available |
| 5 |
Material Type: Article
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BMP type I receptor inhibition reduces heterotopic [corrected] ossificationNature medicine, 2008-12, Vol.14 (12), p.1363-1369 [Peer Reviewed Journal]COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2008 ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/nm.1888 ;PMID: 19029982Full text available |
| 6 |
Material Type: Article
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Autosomal dominant polycystic kidney diseaseThe Lancet (British edition), 2007-04, Vol.369 (9569), p.1287-1301 [Peer Reviewed Journal]Elsevier Ltd ;2007 Elsevier Ltd ;2007 INIST-CNRS ;Copyright Elsevier Limited Apr 14-Apr 20, 2007 ;2007. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(07)60601-1 ;PMID: 17434405 ;CODEN: LANCAOFull text available |
| 7 |
Material Type: Article
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital AmaurosisAmerican journal of human genetics, 2006-09, Vol.79 (3), p.556-561 [Peer Reviewed Journal]2006 The American Society of Human Genetics ;2006 INIST-CNRS ;Copyright University of Chicago, acting through its Press Sep 2006 ;2006 by The American Society of Human Genetics. All rights reserved. 2006 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/507318 ;PMID: 16909394 ;CODEN: AJHGAGFull text available |
| 8 |
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 |
| 9 |
Material Type: Article
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Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' dataThe Lancet (British edition), 2007-01, Vol.369 (9556), p.115-122 [Peer Reviewed Journal]Elsevier Ltd ;2007 Elsevier Ltd ;Copyright Elsevier Limited Jan 13-Jan 19, 2007 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(07)60072-5 ;PMID: 17223474 ;CODEN: LANCAOFull text available |
| 10 |
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 |
| 11 |
Material Type: Article
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Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndromeBJOG : an international journal of obstetrics and gynaecology, 2008-05, Vol.115 (6), p.689-696 [Peer Reviewed Journal]2008 The Authors ;2008 INIST-CNRS ;Journal compilation © RCOG 2008 BJOG An International Journal of Obstetrics and Gynaecology ;2008 The Authors Journal compilation © RCOG 2008 BJOG An International Journal of Obstetrics and Gynaecology 2008 ;ISSN: 1470-0328 ;EISSN: 1471-0528 ;DOI: 10.1111/j.1471-0528.2008.01700.x ;PMID: 18410651 ;CODEN: BIOGFQFull text available |
| 12 |
Material Type: Article
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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgiaJournal of medical genetics, 2004-03, Vol.41 (3), p.171-174 [Peer Reviewed Journal]Copyright 2004 Journal of Medical Genetics ;2004 INIST-CNRS ;Copyright: 2004 Copyright 2004 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2003.012153 ;PMID: 14985375 ;CODEN: JMDGAEFull text available |
| 13 |
Material Type: Article
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Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart diseaseHeart (British Cardiac Society), 2007-06, Vol.93 (6), p.682-687 [Peer Reviewed Journal]Copyright 2007 by Heart ;Copyright: 2007 Copyright 2007 by Heart ;Copyright © 2007 BMJ Publishing Group and British Cardiovascular Society. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.098848 ;PMID: 17164490Full text available |
| 14 |
Material Type: Article
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Hepatic changes in the failing Fontan circulationHeart (British Cardiac Society), 2007-05, Vol.93 (5), p.579-584 [Peer Reviewed Journal]Copyright 2007 by Heart ;2007 INIST-CNRS ;Copyright: 2007 Copyright 2007 by Heart ;Copyright © 2007 BMJ Publishing Group and British Cardiovascular Society. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.094516 ;PMID: 17005713Full text available |
| 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 |
| 16 |
Material Type: Article
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Universal Parameters for Reporting Speech Outcomes in Individuals with Cleft PalateThe Cleft palate-craniofacial journal, 2008-01, Vol.45 (1), p.1-17 [Peer Reviewed Journal]2008 American Cleft Palate-Craniofacial Association ;2008 INIST-CNRS ;Copyright Alliance Communications Group, A Division of Allen Press, Inc. Jan 2008 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;DOI: 10.1597/06-086.1 ;PMID: 18215095 ;CODEN: CPJOEGFull text available |
| 17 |
Material Type: Article
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Risks of contraception and pregnancy in heart diseaseHeart (British Cardiac Society), 2006-10, Vol.92 (10), p.1520-1525 [Peer Reviewed Journal]Copyright 2006 by Heart ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 by Heart ;Copyright © 2006 BMJ Publishing Group and British Cardiovascular Society ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.095240 ;PMID: 16973809Full text available |
| 18 |
Material Type: Article
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Up-regulation of mitochondrial activity and acquirement of brown adipose tissue-like property in the white adipose tissue of fsp27 deficient micePloS one, 2008-08, Vol.3 (8), p.e2890-e2890 [Peer Reviewed Journal]COPYRIGHT 2008 Public Library of Science ;2008 Toh et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (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. ;Toh et al. 2008 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0002890 ;PMID: 18682832Full text available |
| 19 |
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 |
| 20 |
Material Type: Article
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Nephrotic syndrome in childhoodThe Lancet (British edition), 2003-08, Vol.362 (9384), p.629-639 [Peer Reviewed Journal]2003 Elsevier Ltd ;2004 INIST-CNRS ;Copyright Lancet Ltd. Aug 23, 2003 ;Copyright Elsevier Limited Aug 23, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)14184-0 ;PMID: 12944064 ;CODEN: LANCAOFull text available |
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