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1
Central 22q11.2 deletions
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Article
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Central 22q11.2 deletions

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2707-2723 [Peer Reviewed Journal]

2014 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36711 ;PMID: 25123976

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2
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
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Article
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.949-957 [Peer Reviewed Journal]

2015 Wiley Periodicals, Inc. ;2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37524 ;PMID: 26698168

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3
Trisomy 18: Experience of a reference hospital from the south of Brazil
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Article
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Trisomy 18: Experience of a reference hospital from the south of Brazil

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1529-1535 [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.34088 ;PMID: 21671399

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4
A new look at XXYY syndrome: Medical and psychological features
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Article
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A new look at XXYY syndrome: Medical and psychological features

American journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1509-1522 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32366 ;PMID: 18481271

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5
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
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Article
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Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.150-154 [Peer Reviewed Journal]

Copyright © 2005 Wiley‐Liss, Inc. ;Copyright (c) 2005 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.30569 ;PMID: 15880570

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6
Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature
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Article
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Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1462-1466 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35357 ;PMID: 22581654

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