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1	Material Type: Article	Molecular findings from 537 individuals with inherited retinal disease Journal of medical genetics, 2016-11, Vol.53 (11), p.761-767 [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://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/. ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 2016 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2016-103837 ;PMID: 27208204 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome Journal of medical genetics, 2014-03, Vol.51 (3), p.152-158 [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-2013-102113 ;PMID: 24399845 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex Journal of medical genetics, 2023-01, Vol.60 (1), p.48-56 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 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. http://creativecommons.org/licenses/by-nc/4.0/ 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. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ 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)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108064 ;PMID: 34740919 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis Journal of medical genetics, 2020-10, Vol.57 (10), p.653-659 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/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)) 2020. Re-use permitted under CC BY. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106084 ;PMID: 32409509 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations Journal of medical genetics, 2008-10, Vol.45 (10), p.609-621 [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.2008.058743 ;PMID: 18603627 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Journal of medical genetics, 2022-06, Vol.59 (6), p.559-567 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;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. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107595 ;PMID: 33820833 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations Journal of medical genetics, 2020-05, Vol.57 (5), p.301-307 [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 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105389 ;PMID: 30287593 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics Journal of medical genetics, 2021-09, Vol.58 (9), p.609-618 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106901 ;PMID: 33060286 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Genetic obesity: next-generation sequencing results of 1230 patients with obesity Journal of medical genetics, 2018-09, Vol.55 (9), p.578-586 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105315 ;PMID: 29970488 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ 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)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107623 ;PMID: 34815299 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Prenatal clinical manifestations in individuals with COL4A1/2 variants Journal of medical genetics, 2021-08, Vol.58 (8), p.505-513 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106896 ;PMID: 32732225 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Journal of medical genetics, 2021-01, Vol.58 (1), p.41-47 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106823 ;PMID: 32381727 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome Journal of medical genetics, 2023-09, Vol.60 (9), p.885-893 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ 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)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108725 ;PMID: 36788019 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Genetic tests in lymphatic vascular malformations and lymphedema Journal of medical genetics, 2018-04, Vol.55 (4), p.222-232 [Peer Reviewed Journal] Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;Copyright: 2018 © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2017-105064 ;PMID: 29440349 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping Journal of medical genetics, 2023-03, Vol.60 (3), p.274-284 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2022-108553 ;PMID: 35710108 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing Journal of medical genetics, 2013-10, Vol.50 (10), p.674-688 [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: 2013 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 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2013-101558 ;PMID: 23847139 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran Journal of medical genetics, 2015-12, Vol.52 (12), p.823-829 [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://www.bmj.com/company/products-services/rights-and-licensing ;Copyright: 2015 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2015-103389 ;PMID: 26445815 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants Journal of medical genetics, 2023-02, Vol.60 (2), p.163-173 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108093 ;PMID: 35256403 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects Journal of medical genetics, 2022-07, Vol.59 (7), p.691-696 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-107775 ;PMID: 34215651 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders Journal of medical genetics, 2015-03, Vol.52 (3), p.208-216 [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-2014-102819 ;PMID: 25635128 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by