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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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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 |
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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 |
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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 |
| 4 |
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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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Cantú Syndrome Is Caused by Mutations in ABCC9American journal of human genetics, 2012-06, Vol.90 (6), p.1094-1101 [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.2012.04.014 ;PMID: 22608503 ;CODEN: AJHGAGFull text available |
| 6 |
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Prematurity and Severity Are Associated With Toxoplasma gondii Alleles (NCCCTS, 1981—2009)Clinical infectious diseases, 2012-06, Vol.54 (11), p.1595-1605 [Peer Reviewed Journal]Copyright © 2012 Oxford University Press on behalf of the Infectious Diseases Society of America ;2015 INIST-CNRS ;The Author 2012. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com 2012 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1093/cid/cis258 ;PMID: 22499837 ;CODEN: CIDIELFull text available |
| 7 |
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Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39 821 newbornsBMJ, 2009-01, Vol.338 (7687), p.145-149 [Peer Reviewed Journal]Granelli et al 2009 ;Copyright 2009 BMJ Publishing Group Ltd. ;2009 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jan 8, 2009 ;Granelli et al 2009 2009 Granelli et al ;ISSN: 0959-8138 ;ISSN: 0959-8146 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.a3037 ;PMID: 19131383 ;CODEN: BMJOAEFull text available |
| 8 |
Material Type: Article
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Cardiovascular disease in Noonan syndromeArchives of disease in childhood, 2014-07, Vol.99 (7), p.629-634 [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: 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 ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2013-305047 ;PMID: 24534818 ;CODEN: ADCHAKFull text available |
| 9 |
Material Type: Article
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Cancer Risk among Children Born after Assisted ConceptionThe New England journal of medicine, 2013-11, Vol.369 (19), p.1819-1827 [Peer Reviewed Journal]Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1301675 ;PMID: 24195549 ;CODEN: NEJMAGFull text available |
| 10 |
Material Type: Article
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Mutations in DSTYK and Dominant Urinary Tract MalformationsThe New England journal of medicine, 2013-08, Vol.369 (7), p.621-629 [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/NEJMoa1214479 ;PMID: 23862974 ;CODEN: NEJMAGFull text available |
| 11 |
Material Type: Article
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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric SyndromeAmerican journal of human genetics, 2012-04, Vol.90 (4), p.689-692 [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 Apr 6, 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;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.2012.02.009 ;PMID: 22444670 ;CODEN: AJHGAGFull text available |
| 12 |
Material Type: Article
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Cumulative patient effective dose and acute radiation-induced chromosomal DNA damage in children with congenital heart diseaseHeart (British Cardiac Society), 2010-02, Vol.96 (4), p.269-274 [Peer Reviewed Journal]2009, 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: 2009 (c) 2009, 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.2008.160309 ;PMID: 19687017Full text available |
| 13 |
Material Type: Article
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyAnnals of neurology, 2012-10, Vol.72 (4), p.550-558 [Peer Reviewed Journal]Copyright © 2012 American Neurological Association ;2014 INIST-CNRS ;Copyright © 2012 American Neurological Association. ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.23632 ;PMID: 23109149 ;CODEN: ANNED3Full text available |
| 14 |
Material Type: Article
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Congenital Heart Surgery Outcomes in Down Syndrome: Analysis of a National Clinical DatabasePediatrics (Evanston), 2010-08, Vol.126 (2), p.315-322 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright American Academy of Pediatrics Aug 2010 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2009-3245 ;PMID: 20624800 ;CODEN: PEDIAUDigital Resources/Online E-Resources |
| 15 |
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 |
| 16 |
Material Type: Article
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Chronic Diseases, Chromosomal Abnormalities, and Congenital Malformations as Risk Factors for Respiratory Syncytial Virus Hospitalization: A Population-Based Cohort StudyClinical infectious diseases, 2012-03, Vol.54 (6), p.810-817 [Peer Reviewed Journal]Copyright © 2012 Oxford University Press on behalf of the Infectious Diseases Society of America ;2015 INIST-CNRS ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1093/cid/cir928 ;PMID: 22247121 ;CODEN: CIDIELFull text available |
| 17 |
Material Type: Article
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Long-term ventilation in children: longitudinal trends and outcomesArchives of disease in childhood, 2013-09, Vol.98 (9), p.660-665 [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 ;2014 INIST-CNRS ;Copyright: 2013 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: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2012-303062 ;PMID: 23838128 ;CODEN: ADCHAKFull text available |
| 18 |
Material Type: Article
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Risk Factors and Primary Prevention of Congenital Chagas Disease in a Nonendemic CountryClinical infectious diseases, 2013-02, Vol.56 (4), p.496-502 [Peer Reviewed Journal]Copyright © 2013 Oxford University Press on behalf of the Infectious Diseases Society of America ;2014 INIST-CNRS ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1093/cid/cis910 ;PMID: 23097582 ;CODEN: CIDIELFull text available |
| 19 |
Material Type: Article
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Adults With Chronic Health Conditions Originating in Childhood: Inpatient Experience in Children's HospitalsPediatrics (Evanston), 2011-07, Vol.128 (1), p.5-13 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright © 2011 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Jul 2011 ;Copyright © 2011 by the American Academy of Pediatrics 2011 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2010-2037 ;PMID: 21708805 ;CODEN: PEDIAUFull text available |
| 20 |
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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