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Journal Article
Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine ORCID: 0000-0003-4372-1521, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Zschocke, Johannes ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C. (2021). hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. Int. J. Mol. Sci., 22 (4). BASEL: MDPI. ISSN 1422-0067
Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269
Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann ORCID: 0000-0003-3285-4281, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Bamshad, Michael, Bjorck, Erik ORCID: 0000-0002-1210-2245, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus ORCID: 0000-0002-3858-8474, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Romani, Nikolaus ORCID: 0000-0003-1614-9128, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Silver, Rachel, Taylan, Fulya ORCID: 0000-0002-2907-0235, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H. and Zschocke, Johannes ORCID: 0000-0002-0046-8274 (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am. J. Hum. Genet., 99 (5). S. 1005 - 1015. CAMBRIDGE: CELL PRESS. ISSN 1537-6605
Gruber, Robert, Boernchen, Christian, Rose, Katharina, Daubmann, Anne, Volksdorf, Thomas, Madykowski, Ewa, Vidal-y-Sy, Sabine, Peters, Eva M., Danso, Mogbekeloluwa, Bouwstra, Joke A., Hennies, Hans C., Moll, Ingrid, Schmuth, Matthias ORCID: 0000-0002-4064-1334 and Brandner, Johanna M. (2015). Diverse Regulation of Claudin-1 and Claudin-4 in Atopic Dermatitis. Am. J. Pathol., 185 (10). S. 2777 - 2790. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1525-2191
Oji, Vinzenz ORCID: 0000-0003-1380-4828, Tadini, Gianluca, Akiyama, Masashi, Bardon, Claudine Blanchet, Bodemer, Christine, Bourrat, Emmanuelle, Coudiere, Philippe, DiGiovanna, John J., Elias, Peter, Fischer, Judith ORCID: 0000-0002-8580-8118, Fleckman, Philip, Gina, Michal, Harper, John, Hashimoto, Takashi, Hausser, Ingrid, Hennies, Hans Christian, Hohl, Daniel, Hovnanian, Alain ORCID: 0000-0003-3412-7512, Ishida-Yamamoto, Akemi, Jacyk, Witold K., Leachman, Sancy, Leigh, Irene, Mazereeuw-Hautier, Juliette, Milstone, Leonard, Morice-Picard, Fanny, Paller, Amy S., Richard, Gabriele, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Shimizu, Hiroshi, Sprecher, Eli, Van Steensel, Maurice, Taieb, Alain, Toro, Jorge R., Vabres, Pierre ORCID: 0000-0001-8693-3183, Vahlquist, Anders, Williams, Mary and Traupe, Heiko (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009. J. Am. Acad. Dermatol., 63 (4). S. 607 - 642. NEW YORK: MOSBY-ELSEVIER. ISSN 0190-9622