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 TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsAmerican journal of human genetics, 2016-06, Vol.98 (6), p.1235-1242 [Peer Reviewed Journal]2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 2, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.03.030 ;PMID: 27259054Full text available |
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2 |
Material Type: Article
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Cilia: Organelles at the Heart of Heart DiseaseCurrent biology, 2015-06, Vol.25 (13), p.R559-R562 [Peer Reviewed Journal]2015 Elsevier Ltd ;Copyright © 2015 Elsevier Ltd. All rights reserved. ;ISSN: 0960-9822 ;EISSN: 1879-0445 ;DOI: 10.1016/j.cub.2015.05.005 ;PMID: 26126281Full text available |
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3 |
Material Type: Article
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Molecular definition of the 22q11 deletions in velo-cardio-facial syndromeAmerican journal of human genetics, 1995-06, Vol.56 (6), p.1391-1403 [Peer Reviewed Journal]1995 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7762562 ;CODEN: AJHGAGFull text available |
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4 |
Material Type: Article
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Down syndrome : molecular mapping of the congenital heart disease and duodenal stenosisAmerican journal of human genetics, 1992-02, Vol.50 (2), p.294-302 [Peer Reviewed Journal]1992 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 1531166 ;CODEN: AJHGAGFull text available |
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5 |
Material Type: Article
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Familial occurrence of trisomy 22American journal of human genetics, 1968-03, Vol.20 (2), p.107-118 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 5643178Full text available |