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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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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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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Collagen VI related muscle disordersJournal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685 [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.2002.002311 ;PMID: 16141002 ;CODEN: JMDGAEFull text available |
| 4 |
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Genetics of congenital hypothyroidismJournal of Medical Genetics, 2005-05, Vol.42 (5), p.379-389 [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.2004.024158 ;PMID: 15863666 ;CODEN: JMDGAEFull text available |
| 5 |
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A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis EnteropathicaAmerican journal of human genetics, 2002-07, Vol.71 (1), p.66-73 [Peer Reviewed Journal]2002 The American Society of Human Genetics ;2002 INIST-CNRS ;2002 by The American Society of Human Genetics. All rights reserved. 2002 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/341125 ;PMID: 12032886 ;CODEN: AJHGAGFull text available |
| 6 |
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Hirschsprung disease, associated syndromes, and genetics: a reviewJournal of Medical Genetics, 2001-11, Vol.38 (11), p.729-739 [Peer Reviewed Journal]Journal of Medical Genetics ;2002 INIST-CNRS ;Copyright: 2001 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.38.11.729 ;PMID: 11694544 ;CODEN: JMDGAEFull text available |
| 7 |
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Simulconsult: www.simulconsult.comJournal of neurology, neurosurgery and psychiatry, 2005-10, Vol.76 (10), p.1439-1439 [Peer Reviewed Journal]Copyright 2005 Journal of Neurology Neurosurgery and Psychiatry ;Copyright: 2005 Copyright 2005 Journal of Neurology Neurosurgery and Psychiatry ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp.2004.040451 ;CODEN: JNNPAUFull text available |
| 8 |
Material Type: Article
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Is the severity of congenital heart disease associated with the quality of life and perceived health of adult patients?Heart (British Cardiac Society), 2005-09, Vol.91 (9), p.1193-1198 [Peer Reviewed Journal]Copyright 2005 by Heart ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 by Heart ;Copyright © Copyright 2005 by Heart 2005 ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2004.042234 ;PMID: 16103557Full text available |
| 9 |
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Late outcome of Senning and Mustard procedures for correction of transposition of the great arteriesHeart (British Cardiac Society), 2005-05, Vol.91 (5), p.652-656 [Peer Reviewed Journal]Copyright 2005 by Heart ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 by Heart ;Copyright © Copyright 2005 by Heart 2005 ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2003.029769 ;PMID: 15831655Full text available |
| 10 |
Material Type: Article
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Congenital anomalies of the coronary arteriesHeart (British Cardiac Society), 2005-09, Vol.91 (9), p.1240-1245 [Peer Reviewed Journal]Copyright 2005 by Heart ;2005 INIST-CNRS ;Copyright: 2005 Copyright 2005 by Heart ;Copyright © Copyright 2005 by Heart 2005 ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/hrt.2004.057299 ;PMID: 16103577Full text available |
| 11 |
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Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-β1 as well as high ALK1 tissue expressionHaematologica (Roma), 2005-06, Vol.90 (6), p.818-828 [Peer Reviewed Journal]2005 INIST-CNRS ;ISSN: 0390-6078 ;EISSN: 1592-8721Full text available |
| 12 |
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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman SyndromeAmerican journal of human genetics, 2001-11, Vol.69 (5), p.1002-1012 [Peer Reviewed Journal]2001 The American Society of Human Genetics ;2002 INIST-CNRS ;2001 by The American Society of Human Genetics. All rights reserved. 2001 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/324121 ;PMID: 11590543 ;CODEN: AJHGAGFull text available |
| 13 |
Material Type: Article
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Pan-colonic decrease in interstitial cells of Cajal in patients with slow transit constipationGut, 2002-10, Vol.51 (4), p.496-501 [Peer Reviewed Journal]Copyright 2002 by Gut ;2002 INIST-CNRS ;Copyright: 2002 Copyright 2002 by Gut ;Copyright © Copyright 2002 by Gut 2002 ;ISSN: 0017-5749 ;EISSN: 1468-3288 ;DOI: 10.1136/gut.51.4.496 ;PMID: 12235070 ;CODEN: GUTTAKFull text available |
| 14 |
Material Type: Article
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Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidityBritish heart journal, 2002-01, Vol.87 (1), p.67-69 [Peer Reviewed Journal]Copyright 2002 by Heart ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 by Heart ;Copyright © Copyright 2002 by Heart 2002 ;ISSN: 1355-6037 ;ISSN: 0007-0769 ;EISSN: 1468-201X ;EISSN: 2053-5864 ;DOI: 10.1136/heart.87.1.67 ;PMID: 11751670Full text available |
| 15 |
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaEuropean journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.302-308 [Peer Reviewed Journal]2005 INIST-CNRS ;Copyright Nature Publishing Group Mar 2005 ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201269 ;PMID: 15657609Full text available |
| 16 |
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Prevalence, causes, and outcome at 2 years of age of newborn encephalopathy: population based studyArchives of disease in childhood. Fetal and neonatal edition, 2005-05, Vol.90 (3), p.F257-f261 [Peer Reviewed Journal]Copyright 2005 Archives of Disease in Childhood ;Copyright: 2005 Copyright 2005 Archives of Disease in Childhood ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/adc.2003.047985 ;PMID: 15846019Full text available |
| 17 |
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyJournal of medical genetics, 1999-06, Vol.36 (6), p.437-446 [Peer Reviewed Journal]Journal of Medical Genetics ;1999 INIST-CNRS ;Copyright: 1999 Journal of Medical Genetics ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.36.6.437 ;PMID: 10874630 ;CODEN: JMDGAEFull text available |
| 18 |
Material Type: Article
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Milroy disease and the VEGFR-3 mutation phenotypeJournal of Medical Genetics, 2005-02, Vol.42 (2), p.98-102 [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.2004.024802 ;PMID: 15689446 ;CODEN: JMDGAEFull text available |
| 19 |
Material Type: Article
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Mutations in the Human Orthologue of the Mouse underwhite Gene ( uw) Underlie a New Form of Oculocutaneous Albinism, OCA4American journal of human genetics, 2001-11, Vol.69 (5), p.981-988 [Peer Reviewed Journal]2001 The American Society of Human Genetics ;2002 INIST-CNRS ;2001 by The American Society of Human Genetics. All rights reserved. 2001 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/324340 ;PMID: 11574907 ;CODEN: AJHGAGFull text available |
| 20 |
Material Type: Article
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Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in JapaneseEuropean journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.916-922 [Peer Reviewed Journal]2004 INIST-CNRS ;Published online 24 September 2003 ;Copyright Nature Publishing Group Dec 2003 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201073 ;PMID: 14508505Full text available |
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