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1
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

The 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: NEJMAG

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2
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

JNCI : 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: JNCIEQ

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3
Shining a Light on Xeroderma Pigmentosum
Shining a Light on Xeroderma Pigmentosum
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Shining a Light on Xeroderma Pigmentosum

Journal 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: JIDEAE

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4
Severe case of aplasia cutis congenita
Severe case of aplasia cutis congenita
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Severe case of aplasia cutis congenita

Archives 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: 38604652

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5
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

American 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: 28815464

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6
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

American 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: AJHGAG

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7
Congenital self-healing reticulohistiocytosis in a neonate
Congenital self-healing reticulohistiocytosis in a neonate
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Congenital self-healing reticulohistiocytosis in a neonate

Archives 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: 33972263

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8
Asymptomatic subcutaneous nodules on the feet of an infant
Asymptomatic subcutaneous nodules on the feet of an infant
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Asymptomatic subcutaneous nodules on the feet of an infant

Archives 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: 30705082

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9
Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy
Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy
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Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy

American 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/s40257-022-00718-8

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10
An organoid nevus with four adnexal differentiations: A case report
An organoid nevus with four adnexal differentiations: A case report
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An organoid nevus with four adnexal differentiations: A case report

Indian journal of dermatology, 2022-09, Vol.67 (5), p.590-592 [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. ;Copyright: © 2022 Indian Journal of Dermatology 2022 ;ISSN: 0019-5154 ;EISSN: 1998-3611 ;DOI: 10.4103/ijd.ijd_1029_21 ;PMID: 36865881

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11
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk
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New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

British journal of dermatology (1951), 2014-10, Vol.171 (4), p.861-867 [Peer Reviewed Journal]

The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;2015 INIST-CNRS ;The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. ;Copyright © 2014 British Association of Dermatologists ;The Authors. published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. 2014 ;ISSN: 0007-0963 ;EISSN: 1365-2133 ;DOI: 10.1111/bjd.13203 ;PMID: 24976116 ;CODEN: BJDEAZ

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12
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

Journal of medical genetics, 2011-03, Vol.48 (3), p.168-176 [Peer Reviewed Journal]

2011, 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. ;2015 INIST-CNRS ;Copyright: 2011 (c) 2011, 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: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.083022 ;PMID: 21097776 ;CODEN: JMDGAE

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13
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

Nature reviews. Genetics, 2009-11, Vol.10 (11), p.756-768 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2663 ;PMID: 19809470

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14
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Nature genetics, 2012-02, Vol.44 (2), p.140-147 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.1056 ;PMID: 22246504 ;CODEN: NGENEC

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15
Structure and mechanism of human DNA polymerase η
Structure and mechanism of human DNA polymerase η
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Structure and mechanism of human DNA polymerase η

Nature (London), 2010-06, Vol.465 (7301), p.1044-1048 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09196 ;PMID: 20577208 ;CODEN: NATUAS

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16
Melanoma Biomarkers and Their Potential Application for In Vivo Diagnostic Imaging Modalities
Melanoma Biomarkers and Their Potential Application for In Vivo Diagnostic Imaging Modalities
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Melanoma Biomarkers and Their Potential Application for In Vivo Diagnostic Imaging Modalities

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9583 [Peer Reviewed Journal]

2020. This work is licensed 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. ;2020 by the authors. 2020 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms21249583 ;PMID: 33339193

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17
Congenital scars: a rare presentation of neonatal lupus
Congenital scars: a rare presentation of neonatal lupus
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Congenital scars: a rare presentation of neonatal lupus

Archives of disease in childhood. Fetal and neonatal edition, 2019-11, Vol.104 (6), p.F630-F630 [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: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2019-317141 ;PMID: 31362938

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18
Herpes Zoster Presentation, Management, and Prevention: A Modern Case-Based Review
Herpes Zoster Presentation, Management, and Prevention: A Modern Case-Based Review
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Herpes Zoster Presentation, Management, and Prevention: A Modern Case-Based Review

American journal of clinical dermatology, 2020-02, Vol.21 (1), p.97-107 [Peer Reviewed Journal]

Springer Nature Switzerland AG 2019 ;Copyright Springer Nature B.V. Feb 2020 ;ISSN: 1175-0561 ;EISSN: 1179-1888 ;DOI: 10.1007/s40257-019-00483-1 ;PMID: 31741185

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19
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
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Characterising heart rhythm abnormalities associated with Xp22.31 deletion

Journal of medical genetics, 2023-07, Vol.60 (7), p.636-643 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108862 ;PMID: 36379544

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20
Gene Delivery to the Skin – How Far Have We Come?
Gene Delivery to the Skin – How Far Have We Come?
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Gene Delivery to the Skin – How Far Have We Come?

Trends in biotechnology (Regular ed.), 2021-05, Vol.39 (5), p.474-487 [Peer Reviewed Journal]

2020 Elsevier Ltd ;Copyright © 2020 Elsevier Ltd. All rights reserved. ;COPYRIGHT 2021 Elsevier B.V. ;2020. Elsevier Ltd ;2020 Elsevier Ltd. All rights reserved. 2020 Elsevier Ltd ;ISSN: 0167-7799 ;EISSN: 1879-3096 ;DOI: 10.1016/j.tibtech.2020.07.012 ;PMID: 32873394

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