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1 |
Material Type: Article
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careClinical genetics, 2016-03, Vol.89 (3), p.275-284 [Peer Reviewed Journal]2015 The Authors. published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2015 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12654 ;PMID: 26283276Full text available |
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2 |
Material Type: Article
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Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseasesThe FEBS journal, 2011-09, Vol.278 (18), p.3226-3245 [Peer Reviewed Journal]2011 St. John's University. Journal compilation © 2011 FEBS ;2011 St. John's University. Journal compilation © 2011 FEBS. ;ISSN: 1742-464X ;EISSN: 1742-4658 ;DOI: 10.1111/j.1742-4658.2011.08235.x ;PMID: 21740521Full text available |
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3 |
Material Type: Article
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Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypesBioEssays, 2016-07, Vol.38 (7), p.664-673 [Peer Reviewed Journal]2016 The Authors BioEssays Published by WILEY Periodicals, Inc. ;2016 WILEY Periodicals, Inc. ;ISSN: 0265-9247 ;EISSN: 1521-1878 ;DOI: 10.1002/bies.201600084 ;PMID: 27241833 ;CODEN: BIOEEJFull text available |
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Material Type: Article
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Urinary Biomarkers of Renal Disease in Dogs with X‐Linked Hereditary NephropathyJournal of veterinary internal medicine, 2012-03, Vol.26 (2), p.282-293 [Peer Reviewed Journal]Copyright © 2012 by the American College of Veterinary Internal Medicine ;Copyright © 2012 by the American College of Veterinary Internal Medicine. ;ISSN: 0891-6640 ;EISSN: 1939-1676 ;DOI: 10.1111/j.1939-1676.2012.00891.x ;PMID: 22356524Digital Resources/Online E-Resources |
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5 |
Material Type: Article
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Barth syndrome, a human disorder of cardiolipin metabolismFEBS letters, 2006-10, Vol.580 (23), p.5450-5455 [Peer Reviewed Journal]2006 Federation of European Biochemical Societies ;FEBS Letters 580 (2006) 1873-3468 © 2015 Federation of European Biochemical Societies ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/j.febslet.2006.07.022 ;PMID: 16973164Full text available |
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6 |
Material Type: Article
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Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐functionClinical and experimental immunology, 2021-10, Vol.206 (1), p.56-67 [Peer Reviewed Journal]2021 British Society for Immunology ;2021 British Society for Immunology. ;ISSN: 0009-9104 ;EISSN: 1365-2249 ;DOI: 10.1111/cei.13636 ;PMID: 34114647Full text available |
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7 |
Material Type: Article
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Inhibitors of BTK and ITK: State of the New Drugs for Cancer, Autoimmunity and Inflammatory DiseasesScandinavian journal of immunology, 2013-08, Vol.78 (2), p.130-139 [Peer Reviewed Journal]2013 John Wiley & Sons Ltd ;2013 John Wiley & Sons Ltd. ;Copyright © 2013 John Wiley & Sons Ltd ;ISSN: 0300-9475 ;ISSN: 1365-3083 ;EISSN: 1365-3083 ;DOI: 10.1111/sji.12069 ;PMID: 23672610Full text available |
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8 |
Material Type: Article
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Complex single gene disorders and epilepsyEpilepsia (Copenhagen), 2012-09, Vol.53 (s4), p.81-91 [Peer Reviewed Journal]Wiley Periodicals, Inc. © 2012 International League Against Epilepsy ;2015 INIST-CNRS ;Wiley Periodicals, Inc. © 2012 International League Against Epilepsy. ;ISSN: 0013-9580 ;EISSN: 1528-1167 ;DOI: 10.1111/j.1528-1167.2012.03617.x ;PMID: 22946725 ;CODEN: EPILAKFull text available |
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9 |
Material Type: Article
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The role of lipid droplet associated proteins in inherited human disordersFEBS letters, 2024-05, Vol.598 (10), p.1205-1206 [Peer Reviewed Journal]2023 The Authors. published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;2023 The Authors. FEBS Letters published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1002/1873-3468.14779 ;PMID: 38016936Full text available |
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10 |
Material Type: Article
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Primary immunodeficiencies and the control of Epstein-Barr virus infectionAnnals of the New York Academy of Sciences, 2015-11, Vol.1356 (1), p.22-44 [Peer Reviewed Journal]2015 The Authors published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences. ;2015 The Authors Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences. ;2015 The New York Academy of Sciences ;ISSN: 0077-8923 ;EISSN: 1749-6632 ;DOI: 10.1111/nyas.12937 ;PMID: 26415106 ;CODEN: ANYAA9Full text available |
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11 |
Material Type: Article
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MCLPMDA: A novel method for miRNA‐disease association prediction based on matrix completion and label propagationJournal of cellular and molecular medicine, 2019-02, Vol.23 (2), p.1427-1438 [Peer Reviewed Journal]2018 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.14048 ;PMID: 30499204Full text available |
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12 |
Material Type: Article
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Successful bilateral lung transplantation in pulmonary alveolar microlithiasis: A case report and review of literatureThe clinical respiratory journal, 2024-05, Vol.18 (5), p.e13773-n/a [Peer Reviewed Journal]2024 The Authors. published by John Wiley & Sons Ltd. ;2024 The Authors. The Clinical Respiratory Journal published by John Wiley & Sons Ltd. ;2024. This article 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. ;ISSN: 1752-6981 ;EISSN: 1752-699X ;DOI: 10.1111/crj.13773 ;PMID: 38725329Full text available |
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13 |
Material Type: Article
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Functional and structural insight into properdin control of complement alternative pathway amplificationThe EMBO journal, 2017-04, Vol.36 (8), p.1084-1099 [Peer Reviewed Journal]2017 The Authors ;2017 The Authors. ;ISSN: 0261-4189 ;EISSN: 1460-2075 ;DOI: 10.15252/embj.201696173 ;PMID: 28264884 ;CODEN: EMJODGFull text available |
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14 |
Material Type: Article
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Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan ProcedureJournal of the American Heart Association, 2015-12, Vol.4 (12), p.n/a [Peer Reviewed Journal]2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell. ;ISSN: 2047-9980 ;EISSN: 2047-9980 ;DOI: 10.1161/JAHA.115.002302 ;PMID: 26667085Full text available |
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15 |
Material Type: Article
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Diverse diseases from a ubiquitous process: The ribosomopathy paradoxFEBS letters, 2014-05, Vol.588 (9), p.1491-1500 [Peer Reviewed Journal]2014 Federation of European Biochemical Societies ;FEBS Letters 588 (2014) 1873-3468 © 2015 Federation of European Biochemical Societies ;Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/j.febslet.2014.03.024 ;PMID: 24657617Full text available |
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16 |
Material Type: Article
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The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseasesClinical and experimental immunology, 2019-07, Vol.197 (1), p.24-35 [Peer Reviewed Journal]2019 British Society for Immunology ;2019 British Society for Immunology. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0009-9104 ;EISSN: 1365-2249 ;DOI: 10.1111/cei.13288 ;PMID: 30830965Full text available |
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17 |
Material Type: Article
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plasma membrane calcium pump in health and diseaseThe FEBS journal, 2013-11, Vol.280 (21), p.5385-5397 [Peer Reviewed Journal]2013 The Authors Journal compilation © 2013 FEBS ;2013 The Authors Journal compilation © 2013 FEBS. ;Copyright © 2013 Federation of European Biochemical Societies ;ISSN: 1742-464X ;EISSN: 1742-4658 ;DOI: 10.1111/febs.12193 ;PMID: 23413890Full text available |
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18 |
Material Type: Article
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Jérôme Lejeune passed away 25 years agoHereditas, 2019, Vol.156 (1), p.18-18, Article 18 [Peer Reviewed Journal]2019. This work is licensed 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) 2019 ;ISSN: 1601-5223 ;ISSN: 0018-0661 ;EISSN: 1601-5223 ;DOI: 10.1186/s41065-019-0094-8 ;PMID: 31182939Full text available |
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19 |
Material Type: Article
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Rab and Arf Proteins in Genetic DiseasesTraffic (Copenhagen, Denmark), 2013-08, Vol.14 (8), p.871-885 [Peer Reviewed Journal]2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 1398-9219 ;EISSN: 1600-0854 ;DOI: 10.1111/tra.12072 ;PMID: 23565987Full text available |
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20 |
Material Type: Article
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The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1Traffic (Copenhagen, Denmark), 2014-05, Vol.15 (5), p.471-487 [Peer Reviewed Journal]2014 The Authors. Traffic published by John Wiley & Sons Ltd. ;2014 The Authors. Traffic published by John Wiley & Sons Ltd. 2014 ;ISSN: 1398-9219 ;EISSN: 1600-0854 ;DOI: 10.1111/tra.12160 ;PMID: 24499450Full text available |