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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Cerebral venous thrombosis: an updateLancet neurology, 2007-02, Vol.6 (2), p.162-170 [Peer Reviewed Journal]Elsevier Ltd ;2007 Elsevier Ltd ;Copyright Elsevier Limited Feb 2007 ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(07)70029-7 ;PMID: 17239803 ;CODEN: LANCAOFull text available |
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2 |
Material Type: Article
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An SCN9A channelopathy causes congenital inability to experience painNature, 2006-12, Vol.444 (7121), p.894-898 [Peer Reviewed Journal]2007 INIST-CNRS ;COPYRIGHT 2006 Nature Publishing Group ;COPYRIGHT 2006 Nature Publishing Group ;Copyright Nature Publishing Group Dec 14, 2006 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature05413 ;PMID: 17167479 ;CODEN: NATUASFull text available |
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3 |
Material Type: Article
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Abnormal Brain Development in Newborns with Congenital Heart DiseaseThe New England journal of medicine, 2007-11, Vol.357 (19), p.1928-1938 [Peer Reviewed Journal]Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;2007 INIST-CNRS ;Copyright 2007 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa067393 ;PMID: 17989385 ;CODEN: NEJMAGFull text available |
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4 |
Material Type: Article
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Seroprevalence of Cytomegalovirus Infection in the United States, 1988–1994Clinical infectious diseases, 2006-11, Vol.43 (9), p.1143-1151 [Peer Reviewed Journal]Copyright 2006 The Infectious Diseases Society of America ;2006 Infectious Diseases Society of America 2006 ;Copyright University of Chicago, acting through its Press Nov 1, 2006 ;ISSN: 1058-4838 ;EISSN: 1537-6591 ;DOI: 10.1086/508173 ;PMID: 17029132Full text available |
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5 |
Material Type: Article
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Diseases of Unstable Repeat Expansion: Mechanisms and Common PrinciplesNature reviews. Genetics, 2005-10, Vol.6 (10), p.743-755 [Peer Reviewed Journal]COPYRIGHT 2005 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2005 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg1691 ;PMID: 16205714Full text available |
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6 |
Material Type: Article
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Autosomal dominant polycystic kidney diseaseThe Lancet (British edition), 2007-04, Vol.369 (9569), p.1287-1301 [Peer Reviewed Journal]Elsevier Ltd ;2007 Elsevier Ltd ;2007 INIST-CNRS ;Copyright Elsevier Limited Apr 14-Apr 20, 2007 ;2007. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(07)60601-1 ;PMID: 17434405 ;CODEN: LANCAOFull text available |
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7 |
Material Type: Article
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Update of Newborn Screening and Therapy for Congenital HypothyroidismPediatrics (Evanston), 2006-06, Vol.117 (6), p.2290-2303 [Peer Reviewed Journal]2006 INIST-CNRS ;COPYRIGHT 2006 American Academy of Pediatrics ;Copyright American Academy of Pediatrics Jun 2006 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2006-0915 ;PMID: 16740880 ;CODEN: PEDIAUDigital Resources/Online E-Resources |
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8 |
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 |
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9 |
Material Type: Article
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Pulmonary Arterial Hypertension in France: Results from a National RegistryAmerican journal of respiratory and critical care medicine, 2006-05, Vol.173 (9), p.1023-1030 [Peer Reviewed Journal]2006 INIST-CNRS ;Copyright American Thoracic Society May 1, 2006 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.200510-1668OC ;PMID: 16456139Full text available |
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10 |
Material Type: Article
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Nature genetics, 2005-03, Vol.37 (3), p.275-281 [Peer Reviewed Journal]2005 INIST-CNRS ;COPYRIGHT 2005 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2005 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1511 ;PMID: 15731757 ;CODEN: NGENECFull text available |
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11 |
Material Type: Article
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Epidermal barrier formation and recovery in skin disordersThe Journal of clinical investigation, 2006-05, Vol.116 (5), p.1150-1158 [Peer Reviewed Journal]COPYRIGHT 2006 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation May 2006 ;Copyright © 2006, American Society for Clinical Investigation 2006 ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI28521 ;PMID: 16670755Full text available |
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12 |
Material Type: Article
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Primary Immunodeficiencies: A Field in Its InfancyScience (American Association for the Advancement of Science), 2007-08, Vol.317 (5838), p.617-619 [Peer Reviewed Journal]Copyright 2007 American Association for the Advancement of Science ;Copyright © 2007, American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1142963 ;PMID: 17673650 ;CODEN: SCIEASDigital Resources/Online E-Resources |
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13 |
Material Type: Article
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Basement membrane proteoglycans: from cellar to ceilingNature reviews. Molecular cell biology, 2005-08, Vol.6 (8), p.646-656 [Peer Reviewed Journal]COPYRIGHT 2005 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2005 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm1702 ;PMID: 16064139Full text available |
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14 |
Material Type: Article
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Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' dataThe Lancet (British edition), 2007-01, Vol.369 (9556), p.115-122 [Peer Reviewed Journal]Elsevier Ltd ;2007 Elsevier Ltd ;Copyright Elsevier Limited Jan 13-Jan 19, 2007 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(07)60072-5 ;PMID: 17223474 ;CODEN: LANCAOFull text available |
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15 |
Material Type: Article
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Consensus statement on management of intersex disordersArchives of disease in childhood, 2006-07, Vol.91 (7), p.554-563 [Peer Reviewed Journal]Copyright 2006 Archives of Disease in Childhood ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 Archives of Disease in Childhood ;Copyright ©2006 BMJ Publishing Group & Royal College of Paediatrics and Child Health ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/adc.2006.098319 ;PMID: 16624884 ;CODEN: ADCHAKFull text available |
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16 |
Material Type: Article
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Randomized Study of Adding Inhaled Iloprost to Existing Bosentan in Pulmonary Arterial HypertensionAmerican journal of respiratory and critical care medicine, 2006-12, Vol.174 (11), p.1257-1263 [Peer Reviewed Journal]2007 INIST-CNRS ;Copyright American Thoracic Society Dec 1, 2006 ;ISSN: 1073-449X ;EISSN: 1535-4970 ;DOI: 10.1164/rccm.200603-358OC ;PMID: 16946127Full text available |
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17 |
Material Type: Article
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Malformation risks of antiepileptic drugs in pregnancy: a prospective study from the UK Epilepsy and Pregnancy RegisterJournal of neurology, neurosurgery and psychiatry, 2006-02, Vol.77 (2), p.193-198 [Peer Reviewed Journal]Copyright 2006 Journal of Neurology Neurosurgery and Psychiatry ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 Journal of Neurology Neurosurgery and Psychiatry ;Copyright © 2006 BMJ Publishing Group ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp.2005.074203 ;PMID: 16157661 ;CODEN: JNNPAUFull text available |
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18 |
Material Type: Article
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeAmerican journal of human genetics, 2007-02, Vol.80 (2), p.232-240 [Peer Reviewed Journal]2006 The American Society of Human Genetics ;2007 INIST-CNRS ;Copyright University of Chicago, acting through its Press Feb 2007 ;2006 by The American Society of Human Genetics. All rights reserved. 2006 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/510919 ;PMID: 17236129 ;CODEN: AJHGAGFull text available |
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19 |
Material Type: Article
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ATP-sensitive potassium channelopathies: focus on insulin secretionThe Journal of clinical investigation, 2005-08, Vol.115 (8), p.2047-2058 [Peer Reviewed Journal]Copyright American Society for Clinical Investigation Aug 2005 ;Copyright © 2005, American Society for Clinical Investigation 2005 ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI25495 ;PMID: 16075046Full text available |
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20 |
Material Type: Article
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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgiaJournal of medical genetics, 2004-03, Vol.41 (3), p.171-174 [Peer Reviewed Journal]Copyright 2004 Journal of Medical Genetics ;2004 INIST-CNRS ;Copyright: 2004 Copyright 2004 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2003.012153 ;PMID: 14985375 ;CODEN: JMDGAEFull text available |