Results 1 - 20 of 21 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidyAmerican journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1206-1212 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33334 ;PMID: 20425825Full text available |
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International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differencesAmerican journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.877 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38621 ;PMID: 29423966Digital Resources/Online E-Resources |
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Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of ageAmerican journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.501-508 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35769 ;PMID: 23345253Full text available |
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SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic herniaAmerican journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2319-2326 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37177 ;PMID: 26059276Full text available |
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The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapyAmerican journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.423 [Peer Reviewed Journal]2019 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.61038 ;PMID: 30637954Digital Resources/Online E-Resources |
| 6 |
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A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotypeAmerican journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1121-1124 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36972 ;PMID: 25820550Full text available |
| 7 |
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Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumAmerican journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1984-1989 [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.33491 ;PMID: 20635336Full text available |
| 8 |
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureAmerican 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: 26698168Full text available |
| 9 |
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A new look at XXYY syndrome: Medical and psychological featuresAmerican 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: 18481271Full text available |
| 10 |
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Uterine structural anomalies and arthrogryposis-death of an urban legendAmerican journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.82-88 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35683 ;PMID: 23239599Full text available |
| 11 |
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Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delayAmerican journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1942-1954 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;Copyright 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32411 ;PMID: 18627053Full text available |
| 12 |
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Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndromeAmerican journal of medical genetics. Part A, 2004-04, Vol.126A (2), p.129-140 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.20571 ;PMID: 15057977Full text available |
| 13 |
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Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisAmerican journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.150-154 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34308 ;PMID: 22105932Full text available |
| 14 |
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A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndromeAmerican journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.232-236 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;(c) 2009 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32606 ;PMID: 19161156Full text available |
| 15 |
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Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literatureAmerican journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.911-914 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33899 ;PMID: 21595005Full text available |
| 16 |
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Clinical epidemiologic study of holoprosencephaly in South AmericaAmerican journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3088-3099 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32104 ;PMID: 17987642Full text available |
| 17 |
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Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicismAmerican journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1739-1748 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31835 ;PMID: 17603803Full text available |
| 18 |
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High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidyAmerican journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2786-2793 [Peer Reviewed Journal]Copyright © 2006 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2006 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31552 ;PMID: 17106871Full text available |
| 19 |
Material Type: Article
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An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardationAmerican journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.824-829 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;Copyright 2007 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31656 ;PMID: 17366576Full text available |
| 20 |
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in BrazilAmerican journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32378 ;PMID: 18512234Full text available |
Results 1 - 20 of 21 for All Library Resources
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