Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Article
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Urbach Wiethe Disease: uncovering the role of an ECM1 mutation in BBB dysfunctionJournal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A15-A15 [Peer Reviewed Journal]2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/JNNP-2023-ABN.44Full text available |
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Material Type: Article
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Can ParC Ser83Ile status predict fluoroquinolone efficacy in Mycoplasma genitalium infection? – Authors’ replyThe Lancet infectious diseases, 2022-09, Vol.22 (9), p.1274-1275 [Peer Reviewed Journal]2022 Elsevier Ltd ;2022. Elsevier Ltd ;ISSN: 1473-3099 ;EISSN: 1474-4457 ;DOI: 10.1016/S1473-3099(22)00446-7Full text available |
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3 |
Material Type: Conference Proceeding
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286 Establishment and comparison of three subtypes from a human uterine carcinosarcoma cell line (ESCA)International journal of gynecological cancer, 2023, Vol.33 (Suppl 3), p.A65-A66 [Peer Reviewed Journal]2023 IGCS and ESGO 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1048-891X ;EISSN: 1525-1438 ;DOI: 10.1136/ijgc-2023-ESGO.131Full text available |
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Material Type: Article
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F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopyJournal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (Suppl 1), p.A30-A30 [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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2021-EHDN.71Full text available |
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Material Type: Article
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S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A7-A8 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2021-sti.27Full text available |
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6 |
Material Type: Article
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P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide ResistanceSexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A74-A74 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2021-sti.196Full text available |
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7 |
Material Type: Article
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223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac riskJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e56-e56 [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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.188Full text available |
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Material Type: Article
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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorderJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4-e5 [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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.13Full text available |
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9 |
Material Type: Article
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272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorderJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e64-e64 [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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2019-ABN-2.216Full text available |
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10 |
Material Type: Article
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AIR TRAVELLER YIELDS A NEW VARIANT BRISTLING WITH MUTATIONSNature (London), 2021-04, Vol.592 (7854), p.331-331 [Peer Reviewed Journal]Copyright Nature Publishing Group Apr 15, 2021 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/d41586-021-00962-8Full text available |
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11 |
Material Type: Article
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Author Correction: Parent-of-origin-specific signatures of de novo mutationsNature genetics, 2018-11, Vol.50 (11), p.1615-1615 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2018 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0226-5 ;PMID: 30291356Full text available |
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12 |
Material Type: Article
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GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutationsJournal of the American College of Cardiology, 2018-10, Vol.72 (16), p.C170-C170 [Peer Reviewed Journal]2018 ;Copyright Elsevier Limited Oct 16, 2018 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.08.762Full text available |
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13 |
Material Type: Article
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296 Longitudinal measurement of serum NFL in early familial ADJournal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A47-A47 [Peer Reviewed Journal]2018, 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 ;2018 2018, 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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-ABN.160Full text available |
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14 |
Material Type: Article
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276 A new face for an old foe?Journal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A40-A40 [Peer Reviewed Journal]2018, 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 ;2018 2018, 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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-ABN.140Full text available |
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15 |
Material Type: Article
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F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (Suppl 1), p.A41 [Peer Reviewed Journal]2018 2018, 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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2018-EHDN.108Full text available |
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16 |
Material Type: Article
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Upregulated ECM genes and increased synaptic activity in Parkinson's human DA neurons with PINK1/ PRKN mutationsNPJ Parkinson's Disease, 2024-05, Vol.10 (1), p.103-103 [Peer Reviewed Journal]2024. The Author(s). ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 2373-8057 ;EISSN: 2373-8057 ;DOI: 10.1038/s41531-024-00715-0 ;PMID: 38762512Full text available |
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17 |
Material Type: Article
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P608 Simpleprobe PCR assay for detection of mutations associated with macrolide resistance in mycoplasma genitalium samplesSexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A269 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.676Full text available |
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18 |
Material Type: Article
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P597 Comparison of assays and specimen types for the diagnosis of mycoplasma genitalium and macrolide resistant mutationsSexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A265 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.666Full text available |
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19 |
Material Type: Article
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P656 GyrA and parC mutations in fluoroquinolone-resistant neisseria gonorrhoeae isolates from kenyaSexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A289 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.724Full text available |
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20 |
Material Type: Article
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P243 High prevalence of Ureaplasma spp. in women visiting an STI clinic although no azithromycin resistance was discoveredSexually transmitted infections, 2019-07, Vol.95 (Suppl 1), p.A149 [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: 1368-4973 ;EISSN: 1472-3263 ;DOI: 10.1136/sextrans-2019-sti.377Full text available |