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 |
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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 |
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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 |
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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 |
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5 |
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 |
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6 |
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 |
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7 |
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 |
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8 |
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 |
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9 |
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 |
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10 |
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 |
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11 |
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 |
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12 |
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 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/652438 ;PMID: 20426575 ;CODEN: CIDIELFull text available |
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13 |
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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14 |
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 |
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15 |
Material Type: Article
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Inactivating mutations of acetyltransferase genes in B-cell lymphomaNature (London), 2011-03, Vol.471 (7337), p.189-195 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Mar 10, 2011 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09730 ;PMID: 21390126 ;CODEN: NATUASFull text available |
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16 |
Material Type: Article
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Integrin α3 Mutations with Kidney, Lung, and Skin DiseaseThe New England journal of medicine, 2012-04, Vol.366 (16), p.1508-1514 [Peer Reviewed Journal]Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1110813 ;PMID: 22512483 ;CODEN: NEJMAGFull text available |
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17 |
Material Type: Article
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Peri-conception hyperglycaemia and nephropathy are associated with risk of congenital anomaly in women with pre-existing diabetes: a population-based cohort studyDiabetologia, 2012-04, Vol.55 (4), p.936-947 [Peer Reviewed Journal]Springer-Verlag 2012 ;2015 INIST-CNRS ;ISSN: 0012-186X ;EISSN: 1432-0428 ;DOI: 10.1007/s00125-012-2455-y ;PMID: 22314812Full text available |
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18 |
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 |
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19 |
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 |
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20 |
Material Type: Article
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Circadian rhythms govern cardiac repolarization and arrhythmogenesisNature (London), 2012-02, Vol.483 (7387), p.96-99 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 1, 2012 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature10852 ;PMID: 22367544 ;CODEN: NATUASFull text available |