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Number of items: 5.

Journal Article

Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C. (2021). Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Am. J. Med. Genet. A, 185 (12). S. 3900 - 3905. HOBOKEN: WILEY. ISSN 1552-4833

Hotz, Alrun ORCID: 0000-0003-2560-3951, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette ORCID: 0000-0002-3004-0180, Tantcheva-Poor, Iliana, Hellstrom Pigg, Maritta, Has, Cristina ORCID: 0000-0001-6066-507X, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Suessmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter ORCID: 0000-0002-3734-753X, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders and Fischer, Judith ORCID: 0000-0002-8580-8118 (2021). Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes, 12 (1). BASEL: MDPI. ISSN 2073-4425

Tantcheva-Poor, Iliana and Has, Cristina ORCID: 0000-0001-6066-507X (2019). Neonate female with Blister Formation shortly after Birth Preparation for the Specialist Examination: Part 34. Hautarzt, 70. S. 31 - 34. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1173

Tantcheva-Poor, Iliana, Oji, Vinzenz ORCID: 0000-0003-1380-4828 and Has, Cristina ORCID: 0000-0001-6066-507X (2016). A multistep approach to the diagnosis of rare genodermatoses. J. Dtsch. Dermatol. Ges., 14 (10). S. 969 - 986. HOBOKEN: WILEY-BLACKWELL. ISSN 1610-0387

Has, Cristina ORCID: 0000-0001-6066-507X, Kiritsi, Dimitra ORCID: 0000-0002-2331-8981, Mellerio, Jemima E., Franzke, Claus-Werner, Wedgeworth, Emma, Tantcheva-Poor, Iliana, Kernland-Lang, Kristin, Itin, Peter, Simpson, Michael A., Dopping-Hepenstal, Patricia J., Fujimoto, Wataru, McGrath, John A. and Bruckner-Tuderman, Leena (2014). The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. J. Invest. Dermatol., 134 (3). S. 845 - 850. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1747

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