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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 |
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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 |
| 3 |
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 |
| 4 |
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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 |
| 5 |
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 |
| 6 |
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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 |
| 7 |
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 |
| 8 |
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 |
| 9 |
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 |
| 10 |
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 |
| 11 |
Material Type: Article
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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 |
| 12 |
Material Type: Article
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Rare Variants in TP53 and Susceptibility to NeuroblastomaJNCI : Journal of the National Cancer Institute, 2014-04, Vol.106 (4), p.dju047-dju047 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Apr 2014 ;The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com. 2014 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/dju047 ;PMID: 24634504 ;CODEN: JNCIEQFull text available |
| 13 |
Material Type: Article
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Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infectionJAMA : 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: 20388893Digital Resources/Online E-Resources |
| 14 |
Material Type: Article
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Patent Ductus Arteriosus of the Preterm InfantPediatrics (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: PEDIAUDigital Resources/Online E-Resources |
| 15 |
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 |
| 16 |
Material Type: Article
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24Nature 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: NGENECFull text available |
| 17 |
Material Type: Article
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humansNature genetics, 2012-02, Vol.44 (2), p.140-147 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1056 ;PMID: 22246504 ;CODEN: NGENECFull text available |
| 18 |
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 |
| 19 |
Material Type: Article
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Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart DiseasePediatrics (Evanston), 2012, Vol.129 (1), p.190-192 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright American Academy of Pediatrics Jan 2012 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2011-3211 ;PMID: 22201143 ;CODEN: PEDIAUFull text available |
| 20 |
Material Type: Article
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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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