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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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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2 |
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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3 |
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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4 |
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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5 |
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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6 |
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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7 |
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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8 |
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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9 |
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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10 |
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 |
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11 |
Material Type: Article
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Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart diseaseHeart (British Cardiac Society), 2007-06, Vol.93 (6), p.682-687 [Peer Reviewed Journal]Copyright 2007 by Heart ;Copyright: 2007 Copyright 2007 by Heart ;Copyright © 2007 BMJ Publishing Group and British Cardiovascular Society. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.098848 ;PMID: 17164490Full text available |
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12 |
Material Type: Article
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Hepatic changes in the failing Fontan circulationHeart (British Cardiac Society), 2007-05, Vol.93 (5), p.579-584 [Peer Reviewed Journal]Copyright 2007 by Heart ;2007 INIST-CNRS ;Copyright: 2007 Copyright 2007 by Heart ;Copyright © 2007 BMJ Publishing Group and British Cardiovascular Society. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.094516 ;PMID: 17005713Full text available |
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13 |
Material Type: Article
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Risks of contraception and pregnancy in heart diseaseHeart (British Cardiac Society), 2006-10, Vol.92 (10), p.1520-1525 [Peer Reviewed Journal]Copyright 2006 by Heart ;2006 INIST-CNRS ;Copyright: 2006 Copyright 2006 by Heart ;Copyright © 2006 BMJ Publishing Group and British Cardiovascular Society ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2006.095240 ;PMID: 16973809Full text available |
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14 |
Material Type: Article
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Nephrotic syndrome in childhoodThe Lancet (British edition), 2003-08, Vol.362 (9384), p.629-639 [Peer Reviewed Journal]2003 Elsevier Ltd ;2004 INIST-CNRS ;Copyright Lancet Ltd. Aug 23, 2003 ;Copyright Elsevier Limited Aug 23, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)14184-0 ;PMID: 12944064 ;CODEN: LANCAOFull text available |
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15 |
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 ;2006 INIST-CNRS ;Copyright: 2006 (c) 2006 BMJ Publishing Group Ltd. ;Copyright BMJ Publishing Group Oct 21, 2006 ;Copyright © 2006, BMJ Publishing Group Ltd. 2006 ;ISSN: 0959-8138 ;ISSN: 0959-8146 ;EISSN: 1468-5833 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.38982.704931.AE ;PMID: 17053236 ;CODEN: BMJOAEFull text available |
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16 |
Material Type: Article
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The muscular dystrophiesThe Lancet (British edition), 2002-02, Vol.359 (9307), p.687-695 [Peer Reviewed Journal]2002 Elsevier Ltd ;Copyright Lancet Ltd. Feb 23, 2002 ;Copyright Elsevier Limited Feb 23, 2002 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(02)07815-7 ;PMID: 11879882 ;CODEN: LANCAOFull text available |
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17 |
Material Type: Article
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Clinical importance of the cytochromes P450The Lancet (British edition), 2002-10, Vol.360 (9340), p.1155-1162 [Peer Reviewed Journal]2002 Elsevier Ltd ;2002 INIST-CNRS ;Copyright Lancet Ltd. Oct 12, 2002 ;Copyright Elsevier Limited Oct 12, 2002 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(02)11203-7 ;PMID: 12387968 ;CODEN: LANCAOFull text available |
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18 |
Material Type: Article
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)Journal of medical genetics, 2005-07, Vol.42 (7), p.551-557 [Peer Reviewed Journal]Copyright 2005 Journal of Medical Genetics ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2005.030759 ;PMID: 15994876 ;CODEN: JMDGAEFull text available |
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19 |
Material Type: Article
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Duplication of FGF3 , FGF4 , FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogsNature genetics, 2007-11, Vol.39 (11), p.1318-1320 [Peer Reviewed Journal]2008 INIST-CNRS ;COPYRIGHT 2007 Nature Publishing Group ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2007.4 ;PMID: 17906623 ;CODEN: NGENECFull text available |
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20 |
Material Type: Article
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Haemophilias A and BThe Lancet (British edition), 2003-05, Vol.361 (9371), p.1801-1809 [Peer Reviewed Journal]2003 Elsevier Ltd ;2003 INIST-CNRS ;Copyright Lancet Ltd. May 24, 2003 ;Copyright Elsevier Limited May 24, 2003 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(03)13405-8 ;PMID: 12781551 ;CODEN: LANCAOFull text available |