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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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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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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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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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Material Type: Article
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Checking the X.509 Certificate Linter Zlint Based on Request for Comments 5280Journal of physics. Conference series, 2021-07, Vol.1972 (1), p.12016 [Peer Reviewed Journal]Published under licence by IOP Publishing Ltd ;2021. This work is published under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1742-6588 ;EISSN: 1742-6596 ;DOI: 10.1088/1742-6596/1972/1/012016Full text available |
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7 |
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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8 |
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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9 |
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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10 |
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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11 |
Material Type: Article
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PO180 Mosaicism in neurofibromatosis type 2: a case reportJournal of neurology, neurosurgery and psychiatry, 2017-12, Vol.88 (Suppl 1), p.A59-A59 [Peer Reviewed Journal]2017, 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: 2017 © 2017, 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-2017-ABN.202Full text available |
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12 |
Material Type: Article
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PO186 Hereditary leukoencephalopathy (hls) and csf1r heterogeneityJournal of neurology, neurosurgery and psychiatry, 2017-12, Vol.88 (Suppl 1), p.A60-A60 [Peer Reviewed Journal]2017, 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: 2017 © 2017, 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-2017-ABN.207Full text available |
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13 |
Material Type: Article
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PO202 Natural history study in hereditary sensory neuropathy type 1Journal of neurology, neurosurgery and psychiatry, 2017-12, Vol.88 (Suppl 1), p.A65-A65 [Peer Reviewed Journal]2017, 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: 2017 © 2017, 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-2017-ABN.223Full text available |
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14 |
Material Type: Article
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CORRIGENDUMGenetics (Austin), 2019-07, Vol.212 (3), p.953-953 [Peer Reviewed Journal]Copyright Genetics Society of America Jul 2019 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.119.302298Full text available |
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15 |
Material Type: Article
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Abstract 49: A single centre experience on nodular adrenocortical cushings syndromeIndian journal of endocrinology and metabolism, 2022-12, Vol.26 (8), p.21-21 [Peer Reviewed Journal]COPYRIGHT 2022 Medknow Publications and Media Pvt. Ltd. ;2022. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2230-8210 ;EISSN: 2230-9500 ;DOI: 10.4103/2230-8210.363736Full text available |
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16 |
Material Type: Article
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Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancerPloS one, 2017-05, Vol.12 (5), p.e0178275-e0178275 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 The PLOS ONE Staff. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017 The PLOS ONE Staff 2017 The PLOS ONE Staff ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0178275 ;PMID: 28545046Full text available |
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17 |
Material Type: Article
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Correction: A Novel Quantitative Hemolytic Assay Coupled with Restriction Fragment Length Polymorphisms Analysis Enabled Early Diagnosis of Atypical Hemolytic Uremic Syndrome and Identified Unique Predisposing Mutations in JapanPloS one, 2017-05, Vol.12 (5), p.e0178015-e0178015 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Yoshida et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017 Yoshida et al 2017 Yoshida et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0178015 ;PMID: 28520790Full text available |
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Material Type: Article
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A44 INTERVENTIONAL PULMONARY: CASE REPORTS: C.1309c/t Endoglin (eng) Gene Mutation Associated Multiple Pulmonary Arteriovenous Malformations Successfully Treated By Endovascular Coiling And Vascular PlugsAmerican journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970Full text available |
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19 |
Material Type: Article
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C25 NON-TUBERCULOUS MYCOBACTERIA: FROM BENCH TO CLINIC: A Bna-Pcr Based Rapid Identification System For The Detection Of Macrolide Resistant Mycobacterium Avium-Intracellulare ComplexAmerican journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970Full text available |
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Material Type: Article
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C80-J THORACIC ONCOLOGY CASE REPORTS IV: Histologic Transformation From Non-Small Cell Lung Cancer (nsclc) Adenocarcinoma With EGFR-Mutant Exons 20(s768i) And 21(l858r) To Small Cell Lung Carcinoma (sclc): Case ReportAmerican journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970Full text available |