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| 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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Penta X syndrome: A case report with review of the literatureAmerican journal of medical genetics, 1991-07, Vol.40 (1), p.51-56 [Peer Reviewed Journal]Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320400110 ;PMID: 1887850Full text available |
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Material Type: Article
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Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twinsPrenatal diagnosis, 2018-04, Vol.38 (5), p.318 [Peer Reviewed Journal]2018 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5238 ;PMID: 29460287Digital Resources/Online E-Resources |
| 3 |
Material Type: Article
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Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysPLoS genetics, 2012-08, Vol.8 (8), p.e1002843-e1002843 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;Silversides et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Silversides CK, Lionel AC, Costain G, Merico D, Migita O, et al. (2012) Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways. PLoS Genetics 8(8): e1002843. doi:10.1371/journal.pgen.1002843 ;2012 Silversides et al 2012 Silversides et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1002843 ;PMID: 22912587Full text available |
| 4 |
Material Type: Article
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Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarrayPrenatal diagnosis, 2022-01, Vol.42 (1), p.79 [Peer Reviewed Journal]2021 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6078 ;PMID: 34918366Digital Resources/Online E-Resources |
| 5 |
Material Type: Article
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The physical phenotype of girls and women with Turner syndrome is not X-imprintedHuman genetics, 2007-05, Vol.121 (3-4), p.469-474 [Peer Reviewed Journal]2007 INIST-CNRS ;COPYRIGHT 2007 Springer ;Springer-Verlag 2007 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-007-0324-4 ;PMID: 17242899 ;CODEN: HUGEDQFull text available |
| 6 |
Material Type: Article
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Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.555-564 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33874 ;PMID: 21337694Full text available |
| 7 |
Material Type: Article
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The spectrum of clinical features in CHARGE syndromeClinical genetics, 1986-04, Vol.29 (4), p.298-310 [Peer Reviewed Journal]1987 INIST-CNRS ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.1986.tb01258.x ;PMID: 2424647 ;CODEN: CLGNAYFull text available |
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