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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15-minute consultation: A structured approach to the assessment of chest pain in a childArchives of disease in childhood. Education and practice edition, 2014-08, Vol.99 (4), p.122-126 [Peer Reviewed Journal]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 ;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. ;Copyright: 2014 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: 1743-0585 ;EISSN: 1743-0593 ;DOI: 10.1136/archdischild-2013-303919 ;PMID: 24301714Full text available |
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2 |
Material Type: Article
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16p subtelomeric duplication: a clinically recognizable syndromeEuropean journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1135-1140 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright Nature Publishing Group Sep 2009 ;Copyright © 2009 Nature Publishing Group 2009 Nature Publishing Group ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2009.14 ;PMID: 19293839Full text available |
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3 |
Material Type: Article
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1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotypeAmerican journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1535-1541 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35368 ;PMID: 22614953Full text available |
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4 |
Material Type: Article
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22q11 deletion syndrome in adults with schizophreniaAmerican journal of medical genetics, 1998-07, Vol.81 (4), p.328-337 [Peer Reviewed Journal]Copyright © 1998 Wiley‐Liss, Inc. ;1998 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/(SICI)1096-8628(19980710)81:4<328::AID-AJMG10>3.0.CO;2-N ;PMID: 9674980 ;CODEN: AJMGDAFull text available |
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5 |
Material Type: Article
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22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signsPrenatal diagnosis, 2003-09, Vol.23 (9), p.752-757 [Peer Reviewed Journal]Copyright © 2003 John Wiley & Sons, Ltd. ;2004 INIST-CNRS ;Copyright 2003 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.682 ;PMID: 12975788 ;CODEN: PRDIDMFull text available |
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6 |
Material Type: Article
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22q11.2 deletion carriers and schizophrenia-associated novel variantsBritish journal of psychiatry, 2014-05, Vol.204 (5), p.398-399 [Peer Reviewed Journal]Copyright © Royal College of Psychiatrists, 2014 ;2015 INIST-CNRS ;ISSN: 0007-1250 ;EISSN: 1472-1465 ;DOI: 10.1192/bjp.bp.113.138420 ;PMID: 24482440 ;CODEN: BJPYAJFull text available |
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7 |
Material Type: Article
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22q11.2 deletion mosaicism in patients with conotruncal heart defectsBirth defects research. A Clinical and molecular teratology, 2006-04, Vol.76 (4), p.262-265 [Peer Reviewed Journal]Copyright © 2006 Wiley‐Liss, Inc. ;2006 INIST-CNRS ;Copyright 2006 Wiley-Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20246 ;PMID: 16575883 ;CODEN: BDRPBTFull text available |
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8 |
Material Type: Article
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in BrazilAmerican journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32378 ;PMID: 18512234Full text available |
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9 |
Material Type: Article
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22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresiaHeart (British Cardiac Society), 2010-04, Vol.96 (8), p.621-624 [Peer Reviewed Journal]2010, 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: 2010 (c) 2010, 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: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2009.182642 ;PMID: 20357389Full text available |
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10 |
Material Type: Article
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28 Years' Experience With Transatrial-Transpulmonary Repair of Atrioventricular Septal Defect With Tetralogy of Fallot. CommentaryThe Annals of thoracic surgery, 2008, Vol.85 (5), p.1686-1690 [Peer Reviewed Journal]2008 INIST-CNRS ;ISSN: 0003-4975 ;EISSN: 1552-6259 ;CODEN: ATHSAKFull text available |
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11 |
Material Type: Article
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3D-shaded surface rendering of gadolinium-enhanced MR angiography in congenital heart diseasePediatric radiology, 2000-08, Vol.30 (8), p.540-545 [Peer Reviewed Journal]2000 INIST-CNRS ;Springer-Verlag Berlin Heidelberg 2000 ;ISSN: 0301-0449 ;EISSN: 1432-1998 ;DOI: 10.1007/s002470000243 ;PMID: 10993538 ;CODEN: PDRYA5Full text available |
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12 |
Material Type: Article
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4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndromeEuropean journal of pediatrics, 2011-11, Vol.170 (11), p.1465-1470 [Peer Reviewed Journal]Springer-Verlag 2011 ;2015 INIST-CNRS ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-011-1533-3 ;PMID: 21833498 ;CODEN: EJPEDTFull text available |
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13 |
Material Type: Article
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5q11.2 deletion in a patient with tracheal agenesisEuropean journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1265-1268 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Nov 2010 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2010 Macmillan Publishers Limited 2010 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.84 ;PMID: 20551993Full text available |
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14 |
Material Type: Article
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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHEuropean journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.18-27 [Peer Reviewed Journal]2008 INIST-CNRS ;Copyright Nature Publishing Group Jan 2008 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201932 ;PMID: 17940555Full text available |
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15 |
Material Type: Article
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9q subtelomeric deletion syndrome with diaphragmatic herniaAmerican journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.1086-1088 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32823 ;PMID: 19396830Full text available |
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16 |
Material Type: Conference Proceeding
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A 26-year experience with surgical management of tetralogy of fallot : Risk analysis for mortality or late reintervention. DiscussionThe Annals of thoracic surgery, 1998, Vol.66 (2), p.506-511 [Peer Reviewed Journal]1998 INIST-CNRS ;ISSN: 0003-4975 ;EISSN: 1552-6259 ;CODEN: ATHSAKFull text available |
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17 |
Material Type: Article
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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation familyEuropean journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.986-989 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Sep 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.43 ;PMID: 22395867Full text available |
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18 |
Material Type: Article
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Ablation of electrograms with an isolated, delayed component as treatment of unmappable monomorphic ventricular tachycardias in patients with structural heart diseaseJournal of the American College of Cardiology, 2003-01, Vol.41 (1), p.81-92 [Peer Reviewed Journal]2003 American College of Cardiology Foundation ;2003 INIST-CNRS ;Copyright Elsevier Limited Jan 1, 2003 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/S0735-1097(02)02623-2 ;PMID: 12570949 ;CODEN: JACCDIFull text available |
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19 |
Material Type: Article
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Abnormal architecture of the ventricles in hearts with an overriding aortic valve and a perimembranous ventricular septal defect (“Eisenmenger VSD”)International journal of cardiology, 1985-11, Vol.9 (3), p.341-355 [Peer Reviewed Journal]1985 ;1986 INIST-CNRS ;ISSN: 0167-5273 ;EISSN: 1874-1754 ;DOI: 10.1016/0167-5273(85)90032-4 ;PMID: 4055151 ;CODEN: IJCDD5Full text available |
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20 |
Material Type: Article
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Abnormal cardiac autonomic nervous activity after right ventricular outflow tract reconstructionCirculation (New York, N.Y.), 2000-11, Vol.102 (22), p.2732-2738 [Peer Reviewed Journal]2001 INIST-CNRS ;Copyright American Heart Association, Inc. Nov 28, 2000 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/01.cir.102.22.2732 ;PMID: 11094040 ;CODEN: CIRCAZFull text available |