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  1. Hoffmann, Julia [Author]; Casetti, Federica [Author]; Reimer-Taschenbrecker, Antonia [Author]; Leppert, Juna [Author]; Grüninger, Gabriele [Author]; Has, Cristina [Author]

    A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa

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    Uppsala: Acta Dermato-Venereologica, 2019

    Published in: Acta dermato-venereologica> ; 99, 4 (2019), 460-461

  2. Frommherz, Leonie [Author]; Sayar, S.B [Author]; Wang, Yao [Author]; Trefzer, Laura [Author]; He, Yinghong [Author]; Leppert, Juna [Author]; Esser, Philipp Ralf [Author]; Has, Cristina [Author]

    Integrin [alpha]3 negative podocytes: a gene expression study

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    Freiburg: Universität, 2022

  6. Thriene, Kerstin; Grüning, Björn Andreas; Bornert, Olivier; Erxleben, Anika; Leppert, Juna; Athanasiou, Ioannis; Weber, Ekkehard; Kiritsi, Dimitra; Nyström, Alexander; Reinheckel, Thomas; Backofen, Rolf; Has, Cristina; Bruckner-Tuderman, Leena; Dengjel, Jörn

    Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes

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    Elsevier BV, 2018

    Published in: Molecular & Cellular Proteomics, 17 (2018) 4, Seite 565-579

  7. He, Yinghong; Maier, Kristin; Leppert, Juna; Hausser, Ingrid; Schwieger-Briel, Agnes; Weibel, Lisa; Theiler, Martin; Kiritsi, Dimitra; Busch, Hauke; Boerries, Melanie; Hannula-Jouppi, Katariina; Heikkilä, Hannele; Tasanen, Kaisa; Castiglia, Daniele; Zambruno, Giovanna; Has, Cristina

    Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

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    Elsevier BV, 2016

    Published in: The American Journal of Human Genetics, 99 (2016) 6, Seite 1395-1404

  8. Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M. Joao; Ibañez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Gräni, Christoph; Ott, Hagen; Theiler, Martin; Weibel, Lisa; Paller, Amy S.; Zambruno, Giovanna; Fischer, Judith; Palisson, Francis; Has, Cristina

    Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

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    Elsevier BV, 2019

    Published in: Journal of Investigative Dermatology, 139 (2019) 1, Seite 244-249