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21	Material Type: Article	SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum Journal of medical genetics, 2022-09, Vol.59 (9), p.888-894 [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-2021-108114 ;PMID: 34675124 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
22	Material Type: Article	Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Journal of medical genetics, 2023-11, Vol.61 (3), p.250-261 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ 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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109181 ;PMID: 38050128 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
23	Material Type: Article	Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome Journal of medical genetics, 2023-11, Vol.60 (11), p.1127-1132 [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/jmg-2022-109119 ;PMID: 37055165 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
24	Material Type: Article	A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy Journal of medical genetics, 2020-12, Vol.57 (12), p.835-842 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106496 ;PMID: 32179706 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
25	Material Type: Article	Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair Journal of medical genetics, 2011-03, Vol.48 (3), p.168-176 [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. ;2015 INIST-CNRS ;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. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.083022 ;PMID: 21097776 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
26	Material Type: Article	Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH Journal of medical genetics, 2022-03, Vol.59 (3), p.270-278 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. 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-2020-107317 ;PMID: 33461977 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
27	Material Type: Article	Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project Journal of medical genetics, 2022-08, Vol.59 (8), p.737-747 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ 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)) 2022. Re-use permitted under CC BY. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108065 ;PMID: 34716235 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
28	Material Type: Article	The clinical relevance of intragenic NRXN1 deletions Journal of medical genetics, 2020-05, Vol.57 (5), p.347-355 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106448 ;PMID: 31932357 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
29	Material Type: Article	Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study Journal of medical genetics, 2021-04, Vol.58 (4), p.275-283 [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-2020-106936 ;PMID: 32581083 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
30	Material Type: Article	Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice Journal of medical genetics, 2019-10, Vol.56 (10), p.701-710 [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. ;Distributed under a Creative Commons Attribution 4.0 International 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 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105879 ;PMID: 31451536 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
31	Material Type: Article	Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study Journal of medical genetics, 2024-03, Vol.61 (4), p.356-362 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2024. 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/jmg-2023-109513 ;PMID: 38050027 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
32	Material Type: Article	Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis Journal of medical genetics, 2019-07, Vol.56 (7), p.427-433 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105877 ;PMID: 30803986 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
33	Material Type: Article	Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis Journal of medical genetics, 2019-05, Vol.56 (5), p.325-331 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105709 ;PMID: 30573563 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
34	Material Type: Article	Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project Journal of medical genetics, 2023-03, Vol.60 (3), p.247-253 [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-2021-108354 ;PMID: 35595280 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
35	Material Type: Article	Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis Journal of medical genetics, 2024-01, Vol.61 (4), p.363-368 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ 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)) 2024. Re-use permitted under CC BY. Published by BMJ. 2024 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109151 ;PMID: 38290823 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
36	Material Type: Article	Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications Journal of Medical Genetics, 2016-02, Vol.53 (2), p.73-90 [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: 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 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2015-103366 ;PMID: 26502893 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
37	Material Type: Article	Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD Journal of medical genetics, 2020-10, Vol.57 (10), p.717-724 [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. ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106470 ;PMID: 32152250 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
38	Material Type: Article	Patient-derived cellular models of primary ciliopathies Journal of medical genetics, 2022-06, Vol.59 (6), p.517-527 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. 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-2021-108315 ;PMID: 35184035 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
39	Material Type: Article	Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Journal of medical genetics, 2022-07, Vol.59 (11), p.1104-1115 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. 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-2021-108177 ;PMID: 35790351 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
40	Material Type: Article	Features, genetics and their correlation in Jalili syndrome: a systematic review Journal of medical genetics, 2019-06, Vol.56 (6), p.358-369 [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. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105716 ;PMID: 30705057 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by