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American Journal Of Medical Genetics. Part A
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaAmerican journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2058 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.40637 ;PMID: 30380191Digital Resources/Online E-Resources |
| 2 |
Material Type: Article
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Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiersAmerican journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2087 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38662 ;PMID: 29663641Digital Resources/Online E-Resources |
| 3 |
Material Type: Article
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Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry studyAmerican journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.2979-2986 [Peer Reviewed Journal]2014 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36780 ;PMID: 25257471Full text available |
| 4 |
Material Type: Article
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Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndromeAmerican journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2420 [Peer Reviewed Journal]2019 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.61367 ;PMID: 31588666Digital Resources/Online E-Resources |
| 5 |
Material Type: Article
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Consanguinity and the risk of congenital heart diseaseAmerican journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1236-1241 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35272 ;PMID: 22488956Full text available |
| 6 |
Material Type: Article
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Stillbirth: The heart of the matterAmerican journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.691-699 [Peer Reviewed Journal]2014 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36366 ;PMID: 24459042Full text available |
| 7 |
Material Type: Article
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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingAmerican journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3006-3010 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37343 ;PMID: 26334766Full text available |
| 8 |
Material Type: Article
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Risk and protective factors in the origin of conotruncal defects of heart-a population-based case-control studyAmerican journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2444-2452 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36118 ;PMID: 23950097Full text available |
| 9 |
Material Type: Article
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CAmerican journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.706-716 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;Copyright © 2011 Wiley-Liss, Inc. ;2011 Wiley-Liss, Inc. 2011 ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33884 ;PMID: 21438134Full text available |
| 10 |
Material Type: Article
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Survival of children with mosaic Down syndromeAmerican journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.800-801 [Peer Reviewed Journal]This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33295 ;PMID: 20186777Full text available |
| 11 |
Material Type: Article
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Phenotype of Williams-Beuren syndrome in Brazilian patients: Comments on the article by Patil et al. [2012] and discussion of variable phenotypes in distinct populationsAmerican journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.637-638 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35740 ;PMID: 23349022Full text available |
| 12 |
Material Type: Article
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Facial phenotype at different ages and cardiovascular malformations in children with Williams–Beuren syndrome: A study from IndiaAmerican journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1729-1734 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35443 ;PMID: 22628065Full text available |
| 13 |
Material Type: Article
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Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defectsAmerican journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1124-1134 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35313 ;PMID: 22495907Full text available |
| 14 |
Material Type: Article
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Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromesAmerican journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1797-1802 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36054 ;PMID: 23713051Full text available |
| 15 |
Material Type: Article
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Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclinAmerican journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1919-1924 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33555 ;PMID: 20583254Full text available |
| 16 |
Material Type: Article
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Patient with Sotos syndrome, Wolff‐Parkinson‐White pattern on electrocardiogram, and two right‐sided accessory bypass tractsAmerican journal of medical genetics. Part A, 2003-02, Vol.116A (4), p.372-375 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10022 ;PMID: 12522794Full text available |
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