Now showing 1 - 7 of 7
  • 2018Journal Article
    [["dc.bibliographiccitation.firstpage","777"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","785"],["dc.bibliographiccitation.volume","103"],["dc.contributor.author","Romano, Maria-Teresa"],["dc.contributor.author","Tafazzoli, Aylar"],["dc.contributor.author","Mattern, Maximilian"],["dc.contributor.author","Sivalingam, Sugirthan"],["dc.contributor.author","Wolf, Sabrina"],["dc.contributor.author","Rupp, Alexander"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Ellwanger, Jürgen"],["dc.contributor.author","Gambon, Reto"],["dc.contributor.author","Baumer, Alessandra"],["dc.contributor.author","Kohlschmidt, Nicolai"],["dc.contributor.author","Metze, Dieter"],["dc.contributor.author","Holdenrieder, Stefan"],["dc.contributor.author","Paus, Ralf"],["dc.contributor.author","Lütjohann, Dieter"],["dc.contributor.author","Frank, Jorge"],["dc.contributor.author","Geyer, Matthias"],["dc.contributor.author","Bertolini, Marta"],["dc.contributor.author","Kokordelis, Pavlos"],["dc.contributor.author","Betz, Regina C."],["dc.date.accessioned","2020-12-10T14:22:20Z"],["dc.date.available","2020-12-10T14:22:20Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1016/j.ajhg.2018.09.011"],["dc.identifier.issn","0002-9297"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/71584"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2021Journal Article
    [["dc.bibliographiccitation.artnumber","ijd.15718"],["dc.bibliographiccitation.journal","International Journal of Dermatology"],["dc.contributor.author","Kondo, Rogério Nabor"],["dc.contributor.author","Basmanav, Fitnat Buket"],["dc.contributor.author","Wolf, Sabrina"],["dc.contributor.author","Minelli, Lorivaldo"],["dc.contributor.author","Frank, Jorge"],["dc.contributor.author","Betz, Regina C."],["dc.date.accessioned","2021-08-12T07:45:23Z"],["dc.date.available","2021-08-12T07:45:23Z"],["dc.date.issued","2021"],["dc.identifier.doi","10.1111/ijd.15718"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/88449"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-448"],["dc.relation.eissn","1365-4632"],["dc.relation.issn","0011-9059"],["dc.title","Hair loss, facial dysmorphology, and skeletal alterations – a diagnostic challenge"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2019Journal Article
    [["dc.bibliographiccitation.firstpage","845"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Journal der Deutschen Dermatologischen Gesellschaft"],["dc.bibliographiccitation.lastpage","847"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Hermasch, Matthias A."],["dc.contributor.author","Schön, Michael P."],["dc.contributor.author","Betz, Regina C."],["dc.contributor.author","Frank, Jorge"],["dc.date.accessioned","2020-12-10T18:27:20Z"],["dc.date.available","2020-12-10T18:27:20Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1111/ddg.v17.8"],["dc.identifier.eissn","1610-0387"],["dc.identifier.issn","1610-0379"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76310"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Two females with hair loss"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2019Journal Article
    [["dc.bibliographiccitation.firstpage","960"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","964"],["dc.bibliographiccitation.volume","139"],["dc.contributor.author","Ralser, Damian J."],["dc.contributor.author","Takeuchi, Hideyuki"],["dc.contributor.author","Fritz, Günter"],["dc.contributor.author","Basmanav, F. Buket"],["dc.contributor.author","Effern, Maike"],["dc.contributor.author","Sivalingam, Sugirthan"],["dc.contributor.author","El-Shabrawi-Caelen, Laila"],["dc.contributor.author","Degirmentepe, Ece N."],["dc.contributor.author","Kocatürk, Emek"],["dc.contributor.author","Singh, Manuraj"],["dc.contributor.author","Booken, Nina"],["dc.contributor.author","Spierings, Natalia M.K."],["dc.contributor.author","Schnabel, Viktor"],["dc.contributor.author","Heineke, Andre"],["dc.contributor.author","Knuever, Jana"],["dc.contributor.author","Wolf, Sabrina"],["dc.contributor.author","Wehner, Maria"],["dc.contributor.author","Tronnier, Michael"],["dc.contributor.author","Leverkus, Martin"],["dc.contributor.author","Tantcheva-Poór, Iliana"],["dc.contributor.author","Wenzel, Jörg"],["dc.contributor.author","Oji, Vinzenz"],["dc.contributor.author","Has, Cristina"],["dc.contributor.author","Hölzel, Michael"],["dc.contributor.author","Frank, Jorge"],["dc.contributor.author","Haltiwanger, Robert S."],["dc.contributor.author","Betz, Regina C."],["dc.date.accessioned","2020-12-10T14:25:11Z"],["dc.date.available","2020-12-10T14:25:11Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1016/j.jid.2018.10.030"],["dc.identifier.issn","0022-202X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72471"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2021Journal Article
    [["dc.bibliographiccitation.firstpage","1656"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Journal der Deutschen Dermatologischen Gesellschaft"],["dc.bibliographiccitation.lastpage","1660"],["dc.bibliographiccitation.volume","19"],["dc.contributor.affiliation","Schnabel, Viktor; 1\r\nDepartment of Dermatology\r\nVenereology und Allergology\r\nUniversity Medical Center Göttingen\r\nGöttingen Germany"],["dc.contributor.affiliation","Hermasch, Matthias A.; 1\r\nDepartment of Dermatology\r\nVenereology und Allergology\r\nUniversity Medical Center Göttingen\r\nGöttingen Germany"],["dc.contributor.affiliation","Wolf, Sabrina; 2\r\nInstitute of Human Genetics\r\nUniversity of Bonn\r\nSchool of Medicine and University Hospital Bonn\r\nBonn Germany"],["dc.contributor.affiliation","Schön, Michael P.; 1\r\nDepartment of Dermatology\r\nVenereology und Allergology\r\nUniversity Medical Center Göttingen\r\nGöttingen Germany"],["dc.contributor.affiliation","Betz, Regina C.; 2\r\nInstitute of Human Genetics\r\nUniversity of Bonn\r\nSchool of Medicine and University Hospital Bonn\r\nBonn Germany"],["dc.contributor.author","Schnabel, Viktor"],["dc.contributor.author","Hermasch, Matthias A."],["dc.contributor.author","Wolf, Sabrina"],["dc.contributor.author","Schön, Michael P."],["dc.contributor.author","Betz, Regina C."],["dc.contributor.author","Frank, Jorge"],["dc.date.accessioned","2021-12-01T09:21:11Z"],["dc.date.available","2021-12-01T09:21:11Z"],["dc.date.issued","2021"],["dc.date.updated","2022-11-11T13:14:04Z"],["dc.identifier.doi","10.1111/ddg.14487"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/94370"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-478"],["dc.relation.eissn","1610-0387"],["dc.relation.issn","1610-0379"],["dc.rights","This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made."],["dc.title","A woman with hyperpigmented macules and papules"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2018Journal Article
    [["dc.bibliographiccitation.firstpage","1215"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","1218"],["dc.bibliographiccitation.volume","138"],["dc.contributor.author","Frank, Jorge"],["dc.contributor.author","Ralser, Damian J."],["dc.contributor.author","Betz, Regina C."],["dc.date.accessioned","2020-12-10T14:25:10Z"],["dc.date.available","2020-12-10T14:25:10Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1016/j.jid.2017.09.050"],["dc.identifier.issn","0022-202X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72468"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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  • 2021Journal Article
    [["dc.bibliographiccitation.firstpage","1331"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","1334"],["dc.bibliographiccitation.volume","141"],["dc.contributor.author","Hermasch, Matthias A."],["dc.contributor.author","Janning, Helena"],["dc.contributor.author","Schnabel, Viktor"],["dc.contributor.author","Muschalek, Wiebke"],["dc.contributor.author","Bennemann, Anette"],["dc.contributor.author","Schön, Michael P."],["dc.contributor.author","Betz, Regina C."],["dc.contributor.author","Dosch, Roland"],["dc.contributor.author","Frank, Jorge"],["dc.date.accessioned","2021-06-01T09:41:23Z"],["dc.date.available","2021-06-01T09:41:23Z"],["dc.date.issued","2021"],["dc.identifier.doi","10.1016/j.jid.2020.08.026"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/84901"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","0022-202X"],["dc.title","NCSTN Deficiency and Depigmentation: All About Tyrosinase?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]
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