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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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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican 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: AJHGAGFull text available |
| 2 |
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 |
| 3 |
Material Type: Article
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic CriteriaJNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQFull text available |
| 4 |
Material Type: Article
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Shining a Light on Xeroderma PigmentosumJournal of investigative dermatology, 2012-03, Vol.132 (3), p.785-796 [Peer Reviewed Journal]2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2011.426 ;PMID: 22217736 ;CODEN: JIDEAEFull text available |
| 5 |
Material Type: Article
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The global burden of congenital toxoplasmosis: a systematic reviewBulletin of the World Health Organization, 2013-07, Vol.91 (7), p.501-508 [Peer Reviewed Journal]2014 INIST-CNRS ;Copyright World Health Organization Jul 2013 ;(c) World Health Organization (WHO) 2013. All rights reserved. 2013 ;ISSN: 0042-9686 ;EISSN: 1564-0604 ;DOI: 10.2471/blt.12.111732 ;PMID: 23825877 ;CODEN: BWHOA6Full text available |
| 6 |
Material Type: Article
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Developmental genetics of vertebrate glial-cell specificationNature (London), 2010-11, Vol.468 (7321), p.214-222 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Nov 11, 2010 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09611 ;PMID: 21068830 ;CODEN: NATUASFull text available |
| 7 |
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 |
| 8 |
Material Type: Article
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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 |
| 9 |
Material Type: Article
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Developmental neuroplasticity after cochlear implantationTrends in neurosciences (Regular ed.), 2012-02, Vol.35 (2), p.111 [Peer Reviewed Journal]Copyright © 2011. Published by Elsevier Ltd. ;EISSN: 1878-108X ;DOI: 10.1016/j.tins.2011.09.004 ;PMID: 22104561Digital Resources/Online E-Resources |
| 10 |
Material Type: Article
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Copy-Number Disorders Are a Common Cause of Congenital Kidney MalformationsAmerican journal of human genetics, 2012-12, Vol.91 (6), p.987-997 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2014 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 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.2012.10.007 ;PMID: 23159250 ;CODEN: AJHGAGFull text available |
| 11 |
Material Type: Article
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Modern Age Pathology of Pulmonary Arterial HypertensionAmerican journal of respiratory and critical care medicine, 2012-08, Vol.186 (3), p.261-272 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright American Thoracic Society Aug 1, 2012 ;Copyright © 2012 by the American Thoracic Society 2012 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201201-0164OC ;PMID: 22679007Full text available |
| 12 |
Material Type: Article
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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 |
| 13 |
Material Type: Article
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An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in InfancyAmerican journal of respiratory and critical care medicine, 2013-08, Vol.188 (3), p.376-394 [Peer Reviewed Journal]2014 INIST-CNRS ;Copyright American Thoracic Society Aug 1, 2013 ;Copyright © 2013 by the American Thoracic Society 2013 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.201305-0923st ;PMID: 23905526Full text available |
| 14 |
Material Type: Article
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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 |
| 15 |
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 |
| 16 |
Material Type: Article
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Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in NewbornsThe New England journal of medicine, 2011-06, Vol.364 (22), p.2111-2118 [Peer Reviewed Journal]Copyright © 2011 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2011 Massachusetts Medical Society. 2011 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1006561 ;PMID: 21631323 ;CODEN: NEJMAGFull text available |
| 17 |
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 ;Copyright University of Chicago, acting through its Press Jun 1, 2010 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIELFull text available |
| 18 |
Material Type: Article
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Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retinaNature reviews. Neuroscience, 2010-08, Vol.11 (8), p.563-576 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2010 ;ISSN: 1471-003X ;EISSN: 1471-0048 ;DOI: 10.1038/nrn2880 ;PMID: 20648062Full text available |
| 19 |
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 |
| 20 |
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 |
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