Results 1 - 20 of 166 for All Library Resources
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Journal Of Medical Genetics
| 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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Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndromeJournal of medical genetics, 1995-04, Vol.32 (4), p.301-305 [Peer Reviewed Journal]1995 INIST-CNRS ;Copyright BMJ Publishing Group LTD Apr 1995 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.32.4.301 ;PMID: 7643362 ;CODEN: JMDGAEFull text available |
| 2 |
Material Type: Article
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Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting statusJournal of medical genetics, 2000-12, Vol.37 (12), p.e44-44 [Peer Reviewed Journal]Journal of Medical Genetics ;Copyright: 2000 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.37.12.e44 ;PMID: 11106362 ;CODEN: JMDGAEFull text available |
| 3 |
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Increasing knowledge in IGF1R defects: lessons from 35 new patientsJournal of medical genetics, 2020-03, Vol.57 (3), p.160-168 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106328 ;PMID: 31586944Full text available |
| 4 |
Material Type: Article
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The genetic aetiology of Silver–Russell syndromeJournal of medical genetics, 2008-04, Vol.45 (4), p.193-199 [Peer Reviewed Journal]2008 BMJ Publishing Group ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2007.053017 ;PMID: 18156438 ;CODEN: JMDGAEFull text available |
| 5 |
Material Type: Article
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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?Journal of medical genetics, 2005-05, Vol.42 (5), p.e26-e26 [Peer Reviewed Journal]Copyright 2005 Journal of Medical Genetics ;Copyright: 2005 Copyright 2005 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2004.028936 ;PMID: 15863658 ;CODEN: JMDGAEFull text available |
| 6 |
Material Type: Article
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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14Journal of medical genetics, 2007-04, Vol.44 (4), p.264-268 [Peer Reviewed Journal]Copyright 2007 Journal of Medical Genetics ;2007 INIST-CNRS ;Copyright: 2007 Copyright 2007 Journal of Medical Genetics ;Copyright © 2007 BMJ Publishing Group Ltd ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2006.047860 ;PMID: 17220210 ;CODEN: JMDGAEFull text available |
| 7 |
Material Type: Article
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The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteriaJournal of medical genetics, 1999-11, Vol.36 (11), p.837-842 [Peer Reviewed Journal]Journal of Medical Genetics ;1999 INIST-CNRS ;Copyright: 1999 Journal of Medical Genetics ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.36.11.837 ;PMID: 10544228 ;CODEN: JMDGAEFull text available |
| 8 |
Material Type: Article
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Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndromeJournal of medical genetics, 2021-06, Vol.58 (6), p.427-432 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107019 ;PMID: 32576657Full text available |
| 9 |
Material Type: Article
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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypesJournal of medical genetics, 2009-03, Vol.46 (3), p.192-197 [Peer Reviewed Journal]2009 BMJ Publishing Group Ltd ;2009 INIST-CNRS ;Copyright: 2009 2009 BMJ Publishing Group Ltd ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2008.061820 ;PMID: 19066168 ;CODEN: JMDGAEFull text available |
| 10 |
Material Type: Article
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The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndromeJournal of medical genetics, 2007-01, Vol.44 (1), p.59-63 [Peer Reviewed Journal]Copyright 2007 Journal of Medical Genetics ;2007 INIST-CNRS ;Copyright: 2007 Copyright 2007 Journal of Medical Genetics ;Copyright © 2007 BMJ Publishing Group Ltd ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2006.044370 ;PMID: 16963484 ;CODEN: JMDGAEFull text available |
| 11 |
Material Type: Article
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Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regionsJournal of Medical Genetics, 2001-12, Vol.38 (12), p.810-819 [Peer Reviewed Journal]Journal of Medical Genetics ;2002 INIST-CNRS ;Copyright: 2001 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.38.12.810 ;PMID: 11748303 ;CODEN: JMDGAEFull text available |
| 12 |
Material Type: Article
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Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndromeJournal of medical genetics, 2002-08, Vol.39 (8), p.575-581 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.8.575 ;PMID: 12161597 ;CODEN: JMDGAEFull text available |
| 13 |
Material Type: Article
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Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?Journal of medical genetics, 1992-09, Vol.29 (9), p.673-675 [Peer Reviewed Journal]1992 INIST-CNRS ;Copyright BMJ Publishing Group LTD Sep 1992 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.29.9.673 ;PMID: 1404302 ;CODEN: JMDGAEFull text available |
| 14 |
Material Type: Article
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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardationJournal of medical genetics, 2011-05, Vol.48 (5), p.308-311 [Peer Reviewed Journal]2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Copyright: 2011 (c) 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.086504 ;PMID: 21278389 ;CODEN: JMDGAEFull text available |
| 15 |
Material Type: Article
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Submicroscopic chromosomal imbalances in idiopathic Silver–Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndromeJournal of medical genetics, 2010-05, Vol.47 (5), p.356-360 [Peer Reviewed Journal]2010, Published by the BMJ Publishing Group Limited For permission to use, (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;2015 INIST-CNRS ;Copyright: 2010 (c) 2010, Published by the BMJ Publishing Group Limited For permission to use, (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2009.070052 ;PMID: 19762329 ;CODEN: JMDGAEFull text available |
| 16 |
Material Type: Article
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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromesJournal of medical genetics, 2015-02, Vol.52 (2), p.85-94 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Copyright: 2015 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2014-102856 ;PMID: 25480986 ;CODEN: JMDGAEFull text available |
| 17 |
Material Type: Article
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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsJournal of medical genetics, 2020-06, Vol.57 (6), p.389-399 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106474 ;PMID: 32015000Full text available |
| 18 |
Material Type: Article
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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsJournal of medical genetics, 2021-06, Vol.58 (6), p.400-413 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106867 ;PMID: 32732226Full text available |
| 19 |
Material Type: Article
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An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probandsJournal of medical genetics, 1999-06, Vol.36 (6), p.457-460 [Peer Reviewed Journal]Journal of Medical Genetics ;1999 INIST-CNRS ;Copyright: 1999 Journal of Medical Genetics ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.36.6.457 ;PMID: 10874633 ;CODEN: JMDGAEFull text available |
| 20 |
Material Type: Article
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CGG allele size somatic mosaicism and methylation in FMR1 premutation allelesJournal of medical genetics, 2014-05, Vol.51 (5), p.309-318 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Copyright: 2014 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2013-102021 ;PMID: 24591415 ;CODEN: JMDGAEFull text available |
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