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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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAEFull text available |
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2 |
Material Type: Article
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Long-term survival in a 69,XXX triploid premature infantAmerican journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1618-1621 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32352 ;PMID: 18478596Full text available |
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3 |
Material Type: Article
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Recombinant chromosome 7 in a mosaic 45,X/47,XXX patientAmerican journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.206-214 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34364 ;PMID: 22106088Full text available |
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4 |
Material Type: Article
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Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypesAmerican journal of medical genetics, 2002-01, Vol.114 (1), p.93-98 [Peer Reviewed Journal]Copyright © 2001 Wiley‐Liss, Inc. ;2002 INIST-CNRS ;Copyright 2001 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.10154 ;PMID: 11840512 ;CODEN: AJMGDAFull text available |
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5 |
Material Type: Article
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Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the LiteratureFetal diagnosis and therapy, 2010-03, Vol.27 (2), p.113-117 [Peer Reviewed Journal]2010 S. Karger AG, Basel ;2015 INIST-CNRS ;2010 S. Karger AG, Basel. ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000284929 ;PMID: 20160426Full text available |
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6 |
Material Type: Article
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Trisomy 8 mosaicism in a patient born to a mother with 47,XXXAmerican journal of medical genetics. Part A, 2003-05, Vol.119A (1), p.85-86 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.20086 ;PMID: 12707966Full text available |
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7 |
Material Type: Article
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Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidyJournal of medical genetics, 1993-07, Vol.30 (7), p.597-600 [Peer Reviewed Journal]1993 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jul 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.7.597 ;PMID: 8411035 ;CODEN: JMDGAEFull text available |
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8 |
Material Type: Article
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46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious pubertyJournal of medical genetics, 1993-11, Vol.30 (11), p.966-967 [Peer Reviewed Journal]1994 INIST-CNRS ;Copyright BMJ Publishing Group LTD Nov 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.11.966 ;PMID: 8301657 ;CODEN: JMDGAEFull text available |
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9 |
Material Type: Article
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An infant with double trisomy (48,XXX, + 18)American journal of medical genetics, 1994-01, Vol.49 (2), p.207-210 [Peer Reviewed Journal]Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company ;1994 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320490210 ;PMID: 8116670 ;CODEN: AJMGDAFull text available |
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10 |
Material Type: Article
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47,XXX chromosome constitution, ovarian dysgenesis, and genito-urinary malformationAmerican journal of medical genetics, 1988-03, Vol.29 (3), p.511-515 [Peer Reviewed Journal]Copyright © 1988 Wiley‐Liss, Inc., A Wiley Company ;1989 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320290306 ;PMID: 3376994 ;CODEN: AJMGDAFull text available |
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11 |
Material Type: Article
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69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidyAnnales de génétique, 1991, Vol.34 (1), p.37ISSN: 0003-3995 ;PMID: 1952791Digital Resources/Online E-Resources |
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12 |
Material Type: Article
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Is the prevalence of Klinefelter syndrome increasing?European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Peer Reviewed Journal]2008 INIST-CNRS ;Copyright Nature Publishing Group Feb 2008 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201956 ;PMID: 18000523Full text available |
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13 |
Material Type: Article
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromePrenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Peer Reviewed Journal]Copyright © 2010 John Wiley & Sons, Ltd. ;2015 INIST-CNRS ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2613 ;PMID: 20842625 ;CODEN: PRDIDMFull text available |
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14 |
Material Type: Article
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Feb 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.148 ;PMID: 20736977Full text available |
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15 |
Material Type: Article
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HEAD CIRCUMFERENCE AND IQ, OF CHILDREN WITH SEX CHROMOSOME ABNORMALITIESDevelopmental medicine and child neurology, 1994-06, Vol.36 (6), p.533-544 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0012-1622 ;EISSN: 1469-8749 ;DOI: 10.1111/j.1469-8749.1994.tb11884.x ;PMID: 8005365 ;CODEN: DMCNAWFull text available |
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16 |
Material Type: Article
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The significance of prenatally identified isolated clubfoot: Is amniocentesis indicated?American journal of obstetrics and gynecology, 1998-03, Vol.178 (3), p.600-602 [Peer Reviewed Journal]1998 Mosby, Inc. ;1998 INIST-CNRS ;ISSN: 0002-9378 ;EISSN: 1097-6868 ;DOI: 10.1016/S0002-9378(98)70445-4 ;PMID: 9539532 ;CODEN: AJOGAHFull text available |
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17 |
Material Type: Article
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Long term outcome in children of sex chromosome abnormalitiesArchives of disease in childhood, 1999-02, Vol.80 (2), p.192-195 [Peer Reviewed Journal]Royal College of Paediatrics and Child Health ;1999 INIST-CNRS ;Copyright: 1999 Royal College of Paediatrics and Child Health ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/adc.80.2.192 ;PMID: 10325742 ;CODEN: ADCHAKFull text available |
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18 |
Material Type: Article
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Modification of stage II procedure after hybrid palliation (bilateral pulmonary artery banding and ductal stenting) for hypoplastic left-sided heart syndrome: Modified arch reconstruction with retained stented ductus patchThe Journal of thoracic and cardiovascular surgery, 2007-12, Vol.134 (6), p.1588 [Peer Reviewed Journal]EISSN: 1097-685X ;DOI: 10.1016/j.jtcvs.2007.08.033 ;PMID: 18023692Digital Resources/Online E-Resources |
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19 |
Material Type: Article
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Sclerotherapy to a large cervicofacial vascular malformation: A case report with 24 years' follow‐upHead & neck, 2005-07, Vol.27 (7), p.639-643 [Peer Reviewed Journal]Copyright © 2005 Wiley Periodicals, Inc. ;2005 INIST-CNRS ;ISSN: 1043-3074 ;EISSN: 1097-0347 ;DOI: 10.1002/hed.20198 ;PMID: 15880394Full text available |
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20 |
Material Type: Article
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Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysisPrenatal diagnosis, 1994-11, Vol.14 (11), p.1035-1041 [Peer Reviewed Journal]Copyright © 1994 John Wiley & Sons, Ltd. ;1995 INIST-CNRS ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1970141105 ;PMID: 7877951 ;CODEN: PRDIDMFull text available |