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Medical Sciences
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
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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CHARGE syndrome: an updateEuropean journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.389-399 [Peer Reviewed Journal]2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439Full text available |
| 3 |
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Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management: A Scientific Statement From the American Heart AssociationCirculation (New York, N.Y.), 2012-08, Vol.126 (9), p.1143-1172 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0b013e318265ee8a ;PMID: 22851541 ;CODEN: CIRCAZFull text available |
| 4 |
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumorsNature genetics, 2009-11, Vol.41 (11), p.1247-1252 [Peer Reviewed Journal]2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.470 ;PMID: 19855393 ;CODEN: NGENECFull text available |
| 5 |
Material Type: Article
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Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart diseaseClinical genetics, 2010-12, Vol.78 (6), p.533-540 [Peer Reviewed Journal]2010 John Wiley & Sons A/S ;2015 INIST-CNRS ;2010 John Wiley & Sons A/S. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.2010.01422.x ;PMID: 20456451 ;CODEN: CLGNAYFull text available |
| 6 |
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 |
| 7 |
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 |
| 8 |
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 |
| 9 |
Material Type: Article
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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephalyAm J Med Genet B Neuropsychiatr Genet, 2007-06, Vol.144B (4), p.484-491 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1552-4841 ;EISSN: 1552-485X ;DOI: 10.1002/ajmg.b.30493 ;PMID: 17427195Full text available |
| 10 |
Material Type: Article
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Genetic disorders in the Arab worldBMJ, 2006-10, Vol.333 (7573), p.831-834 [Peer Reviewed Journal]2006 BMJ Publishing Group Ltd. ;2006 BMJ Publishing Group Ltd ;Copyright: 2006 (c) 2006 BMJ Publishing Group Ltd. ;Copyright © 2006, BMJ Publishing Group Ltd. 2006 ;ISSN: 0959-8138 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.38982.704931.AE ;PMID: 17053236Full text available |
| 11 |
Material Type: Article
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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral InfectionsThe New England journal of medicine, 2014-04, Vol.370 (17), p.1615-1625 [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/NEJMoa1302846 ;PMID: 24716661 ;CODEN: NEJMAGFull text available |
| 12 |
Material Type: Article
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital AmaurosisAmerican 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: AJHGAGFull text available |
| 13 |
Material Type: Article
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High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With HeterotaxyCirculation (New York, N.Y.), 2012-05, Vol.125 (18), p.2232-2242 [Peer Reviewed Journal]2015 INIST-CNRS ;2012 American Heart Association, Inc. 2012 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.111.079780 ;PMID: 22499950 ;CODEN: CIRCAZFull text available |
| 14 |
Material Type: Article
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Specialized Adult Congenital Heart Disease Care: The Impact of Policy on MortalityCirculation (New York, N.Y.), 2014-05, Vol.129 (18), p.1804-1812 [Peer Reviewed Journal]2014 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.113.005817 ;PMID: 24589851 ;CODEN: CIRCAZFull text available |
| 15 |
Material Type: Article
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The spectrum of adult congenital heart disease in Europe: morbidity and mortality in a 5 year follow-up period : The Euro Heart Survey on adult congenital heart diseaseEuropean heart journal, 2005-11, Vol.26 (21), p.2325-2333 [Peer Reviewed Journal]2005 INIST-CNRS ;ISSN: 0195-668X ;ISSN: 1522-9645 ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehi396 ;PMID: 15996978Full text available |
| 16 |
Material Type: Article
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Geriatric Congenital Heart Disease: Burden of Disease and Predictors of MortalityJournal of the American College of Cardiology, 2011-09, Vol.58 (14), p.1509-1515 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright © 2011 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Sep 27, 2011 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2011.06.041 ;PMID: 21939837 ;CODEN: JACCDIFull text available |
| 17 |
Material Type: Article
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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneityNature 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: 19809470Full text available |
| 18 |
Material Type: Article
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Identification of a Kir3.4 Mutation in Congenital Long QT SyndromeAmerican journal of human genetics, 2010-06, Vol.86 (6), p.872-880 [Peer Reviewed Journal]2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jun 11, 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.2010.04.017 ;PMID: 20560207 ;CODEN: AJHGAGFull text available |
| 19 |
Material Type: Article
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Prevention and Treatment of Thrombosis in Pediatric and Congenital Heart Disease: A Scientific Statement From the American Heart AssociationCirculation (New York, N.Y.), 2013-12, Vol.128 (24), p.2622-2703 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/01.cir.0000436140.77832.7a ;PMID: 24226806 ;CODEN: CIRCAZFull text available |
| 20 |
Material Type: Article
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Promotion of Physical Activity for Children and Adults With Congenital Heart Disease: A Scientific Statement From the American Heart AssociationCirculation, 2013-05, Vol.127 (21), p.2147-2159 [Peer Reviewed Journal]2013 American Heart Association, Inc. ;2014 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0b013e318293688f ;PMID: 23630128 ;CODEN: CIRCAZFull text available |
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