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1
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
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F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy

Journal 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.71

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2
272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal 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-2.216

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3
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk
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223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk

Journal 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-2.188

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4
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Journal 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-2.13

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5
Author Correction: Parent-of-origin-specific signatures of de novo mutations
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Author Correction: Parent-of-origin-specific signatures of de novo mutations

Nature 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: 30291356

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6
Checking the X.509 Certificate Linter Zlint Based on Request for Comments 5280
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Checking the X.509 Certificate Linter Zlint Based on Request for Comments 5280

Journal 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: 10.1088/1742-6596/1972/1/012016

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7
GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations
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GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations

Journal 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.2018.08.762

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8
276 A new face for an old foe?
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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.140

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9
296 Longitudinal measurement of serum NFL in early familial AD
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296 Longitudinal measurement of serum NFL in early familial AD

Journal 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.160

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10
F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50
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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 50

Journal 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.108

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11
PO180 Mosaicism in neurofibromatosis type 2: a case report
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PO180 Mosaicism in neurofibromatosis type 2: a case report

Journal 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.202

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12
PO186 Hereditary leukoencephalopathy (hls) and csf1r heterogeneity
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PO186 Hereditary leukoencephalopathy (hls) and csf1r heterogeneity

Journal 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.207

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13
PO202 Natural history study in hereditary sensory neuropathy type 1
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PO202 Natural history study in hereditary sensory neuropathy type 1

Journal 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.223

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14
CORRIGENDUM
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CORRIGENDUM

Genetics (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.119.302298

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15
Abstract 49: A single centre experience on nodular adrenocortical cushings syndrome
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Abstract 49: A single centre experience on nodular adrenocortical cushings syndrome

Indian 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: 10.4103/2230-8210.363736

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16
Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer
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Correction: Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer

PloS 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: 28545046

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17
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 Japan
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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 Japan

PloS 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: 28520790

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18
A44 INTERVENTIONAL PULMONARY: CASE REPORTS: C.1309c/t Endoglin (eng) Gene Mutation Associated Multiple Pulmonary Arteriovenous Malformations Successfully Treated By Endovascular Coiling And Vascular Plugs
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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 Plugs

American journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]

Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970

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19
C25 NON-TUBERCULOUS MYCOBACTERIA: FROM BENCH TO CLINIC: A Bna-Pcr Based Rapid Identification System For The Detection Of Macrolide Resistant Mycobacterium Avium-Intracellulare Complex
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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 Complex

American journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]

Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970

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20
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 Report
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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 Report

American journal of respiratory and critical care medicine, 2017-01, Vol.195 [Peer Reviewed Journal]

Copyright American Thoracic Society 2017 ;ISSN: 1073-449X ;EISSN: 1535-4970

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