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1	Material Type: Article	Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 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 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Cytomegalovirus Seroprevalence in the United States: The National Health and Nutrition Examination Surveys, 1988–2004 Clinical 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: CIDIEL Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	An SCN9A channelopathy causes congenital inability to experience pain Nature, 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: NATUAS Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Abnormal Brain Development in Newborns with Congenital Heart Disease The 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: NEJMAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment Blood reviews, 2010-11, Vol.24 (6), p.203 [Peer Reviewed Journal] Copyright © 2010 Elsevier Ltd. All rights reserved. ;EISSN: 1532-1681 ;DOI: 10.1016/j.blre.2010.07.001 ;PMID: 20870325 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
6	Material Type: Article	Patent Ductus Arteriosus of the Preterm Infant Pediatrics (Evanston), 2010-05, Vol.125 (5), p.1020-1030 [Peer Reviewed Journal] 2015 INIST-CNRS ;Copyright American Academy of Pediatrics May 2010 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2009-3506 ;PMID: 20421261 ;CODEN: PEDIAU Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
7	Material Type: Article	Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection JAMA : the journal of the American Medical Association, 2010-04, Vol.303 (14), p.1375 [Peer Reviewed Journal] EISSN: 1538-3598 ;DOI: 10.1001/jama.2010.423 ;PMID: 20388893 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
8	Material Type: Article	Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity Nature reviews. Genetics, 2009-11, Vol.10 (11), p.756-768 [Peer Reviewed Journal] 2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2663 ;PMID: 19809470 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Structure and mechanism of human DNA polymerase η Nature (London), 2010-06, Vol.465 (7301), p.1044-1048 [Peer Reviewed Journal] 2015 INIST-CNRS ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09196 ;PMID: 20577208 ;CODEN: NATUAS Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 Nature 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: NGENEC Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations American 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: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Autosomal dominant polycystic kidney disease The 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: LANCAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Update of Newborn Screening and Therapy for Congenital Hypothyroidism Pediatrics (Evanston), 2006-06, Vol.117 (6), p.2290-2303 [Peer Reviewed Journal] 2006 INIST-CNRS ;COPYRIGHT 2006 American Academy of Pediatrics ;Copyright American Academy of Pediatrics Jun 2006 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2006-0915 ;PMID: 16740880 ;CODEN: PEDIAU Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
14	Material Type: Article	Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis American 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: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies American journal of human genetics, 2009-07, Vol.85 (1), p.76-86 [Peer Reviewed Journal] 2009 The American Society of Human Genetics ;2009 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jul 10, 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.2009.06.006 ;PMID: 19576565 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape Heart (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: 18308868 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39 821 newborns BMJ, 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: BMJOAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability American journal of human genetics, 2010-07, Vol.87 (1), p.60-74 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press Jul 9, 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.2010.06.007 ;PMID: 20598273 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease American journal of human genetics, 2010-08, Vol.87 (2), p.274-281 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright Cell Press Aug 13, 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.2010.07.005 ;PMID: 20691404 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia American journal of human genetics, 2010-11, Vol.87 (5), p.721-727 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Nov 12, 2010 ;Distributed under a Creative Commons Attribution 4.0 International License ;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.2010.10.010 ;PMID: 21055716 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 1,282 for All Library Resources

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: CIDIEL

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: NATUAS

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: NEJMAG

Copyright © 2010 Elsevier Ltd. All rights reserved. ;EISSN: 1532-1681 ;DOI: 10.1016/j.blre.2010.07.001 ;PMID: 20870325

2015 INIST-CNRS ;Copyright American Academy of Pediatrics May 2010 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2009-3506 ;PMID: 20421261 ;CODEN: PEDIAU

EISSN: 1538-3598 ;DOI: 10.1001/jama.2010.423 ;PMID: 20388893

2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2663 ;PMID: 19809470

2015 INIST-CNRS ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09196 ;PMID: 20577208 ;CODEN: NATUAS

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: NGENEC

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: LANCAO

2006 INIST-CNRS ;COPYRIGHT 2006 American Academy of Pediatrics ;Copyright American Academy of Pediatrics Jun 2006 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2006-0915 ;PMID: 16740880 ;CODEN: PEDIAU

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: AJHGAG

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: 18308868

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: BMJOAE

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