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Refined by: Journal Title: Journal Of Medical Genetics

subject: Congenital Diseases

Result Number	Material Type	Record Details and Options
1	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
2	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
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. ;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	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
5	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
6	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
7	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
8	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
9	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
10	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. ;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
11	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
12	Material Type: Article	‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects Journal of medical genetics, 2020-12, Vol.57 (12), p.797-807 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. 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)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106769 ;PMID: 32430361 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	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
14	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
15	Material Type: Article	Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature Journal of medical genetics, 2017-12, Vol.54 (12), p.843-851 [Peer Reviewed Journal] Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;Copyright: 2017 © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2017-104903 ;PMID: 28954837 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Journal of medical genetics, 2019-08, Vol.56 (8), p.526-535 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. 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-2018-105778 ;PMID: 30923172 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy Journal of medical genetics, 2022-08, Vol.59 (8), p.759-767 [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-2021-107884 ;PMID: 34321325 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology Journal of medical genetics, 2019-06, Vol.56 (6), p.413-418 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. 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)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105463 ;PMID: 30242100 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene Journal of medical genetics, 2024-04, p.jmg-2024-109846 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. 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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2024-109846 ;PMID: 38663984 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations Journal 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: 32732226 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by