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Dermatology
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQThe New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAGFull text available |
| 2 |
Material Type: Article
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic CriteriaJNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQFull text available |
| 3 |
Material Type: Article
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Bullous Aplasia Cutis as a Presenting Sign of EncephaloceleJAMA dermatology (Chicago, Ill.), 2023-11, Vol.159 (11), p.1267 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2023.2708 ;PMID: 37728935Digital Resources/Online E-Resources |
| 4 |
Material Type: Article
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Shining a Light on Xeroderma PigmentosumJournal of investigative dermatology, 2012-03, Vol.132 (3), p.785-796 [Peer Reviewed Journal]2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2012 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2011.426 ;PMID: 22217736 ;CODEN: JIDEAEFull text available |
| 5 |
Material Type: Article
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Severe case of aplasia cutis congenitaArchives of disease in childhood. Fetal and neonatal edition, 2024-04, p.fetalneonatal-2024-327067 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2024-327067 ;PMID: 38604652Full text available |
| 6 |
Material Type: Article
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CLOVES SyndromeJAMA dermatology (Chicago, Ill.), 2023-06, Vol.159 (6), p.659 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2022.6180 ;PMID: 37017999Digital Resources/Online E-Resources |
| 7 |
Material Type: Article
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Lamellar IchthyosisJAMA dermatology (Chicago, Ill.), 2023-02, Vol.159 (2), p.210 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2022.5112 ;PMID: 36576743Digital Resources/Online E-Resources |
| 8 |
Material Type: Article
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The rise of syphilis: a call to action for dermatologistsThe Lancet infectious diseases, 2024-04, Vol.24 (4), p.e219-e220 [Peer Reviewed Journal]2024 Elsevier Ltd ;2024. Elsevier Ltd ;ISSN: 1473-3099 ;EISSN: 1474-4457 ;DOI: 10.1016/S1473-3099(24)00098-7 ;PMID: 38401552Digital Resources/Online E-Resources |
| 9 |
Material Type: Article
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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and TreatmentAmerican journal of clinical dermatology, 2018-02, Vol.19 (1), p.51-66 [Peer Reviewed Journal]The Author(s) 2017 ;Copyright Springer Science & Business Media Feb 2018 ;ISSN: 1175-0561 ;ISSN: 1179-1888 ;EISSN: 1179-1888 ;DOI: 10.1007/s40257-017-0313-x ;PMID: 28815464Full text available |
| 10 |
Material Type: Article
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb AnomaliesAmerican journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Peer Reviewed Journal]2011 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 13, 2011 ;2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.04.013 ;PMID: 21565291 ;CODEN: AJHGAGFull text available |
| 11 |
Material Type: Article
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Late-Onset Congenital Erythropoietic PorphyriaJAMA dermatology (Chicago, Ill.), 2022-02, Vol.158 (2), p.203 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2021.5005 ;PMID: 34964809Digital Resources/Online E-Resources |
| 12 |
Material Type: Article
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Ichthyosis Scoring System-A Powerful Tool in the Era of Immune Pathway-Targeted Therapies for IchthyosisJAMA dermatology (Chicago, Ill.), 2022-04, Vol.158 (4), p.354 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2021.5342 ;PMID: 35171196Digital Resources/Online E-Resources |
| 13 |
Material Type: Article
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Congenital self-healing reticulohistiocytosis in a neonateArchives of disease in childhood. Fetal and neonatal edition, 2022-11, Vol.107 (6), p.644-644 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2021. 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: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2021-321719 ;PMID: 33972263Full text available |
| 14 |
Material Type: Article
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Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naeviBritish journal of dermatology (1951), 2020-02, Vol.182 (2), p.434 [Peer Reviewed Journal]2019 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;EISSN: 1365-2133 ;DOI: 10.1111/bjd.18106 ;PMID: 31111470Digital Resources/Online E-Resources |
| 15 |
Material Type: Article
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Asymptomatic subcutaneous nodules on the feet of an infantArchives of disease in childhood, 2020-06, Vol.105 (6), p.544-544 [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: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2018-316699 ;PMID: 30705082Full text available |
| 16 |
Material Type: Article
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Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac outputJAMA : the journal of the American Medical Association, 2012-03, Vol.307 (9), p.948 [Peer Reviewed Journal]EISSN: 1538-3598 ;DOI: 10.1001/jama.2012.250 ;PMID: 22396517Digital Resources/Online E-Resources |
| 17 |
Material Type: Article
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Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related TherapyAmerican journal of clinical dermatology, 2022-11, Vol.23 (6), p.853-867 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Nature Switzerland AG 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;Copyright Springer Nature B.V. Nov 2022 ;ISSN: 1175-0561 ;EISSN: 1179-1888 ;DOI: 10.1007/s40257-022-00718-8Full text available |
| 18 |
Material Type: Article
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Management of congenital ichthyoses: European guidelines of care, part oneBritish journal of dermatology (1951), 2019-02, Vol.180 (2), p.272 [Peer Reviewed Journal]2018 British Association of Dermatologists. ;EISSN: 1365-2133 ;DOI: 10.1111/bjd.17203 ;PMID: 30216406Digital Resources/Online E-Resources |
| 19 |
Material Type: Article
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Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatmentBlood reviews, 2010-11, Vol.24 (6), p.203 [Peer Reviewed Journal]Copyright © 2010 Elsevier Ltd. All rights reserved. ;EISSN: 1532-1681 ;DOI: 10.1016/j.blre.2010.07.001 ;PMID: 20870325Digital Resources/Online E-Resources |
| 20 |
Material Type: Article
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A congenital nodule on the neckPediatric dermatology, 2021-09, Vol.38 (5), p.1315 [Peer Reviewed Journal]EISSN: 1525-1470 ;DOI: 10.1111/pde.14709 ;PMID: 34750890Digital Resources/Online E-Resources |
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