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Journal Article
Dimopoulou, Aikaterini, Fischer, Bjorn, Gardeitchik, Thatjana, Schroeter, Phillipe, Kayserili, Hullya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco 
ORCID: 0000-0002-6069-0993, Spaich, Christiane, Fletcher, Elaine, Mahayri, Zeina, Bhat, Meenakshi, Girisha, Katta M., Lachlan, Katherine, Johnson, Diana, Phadke, Shubha ORCID: 0000-0002-6624-082X, Gupta, Neerja, Simandlova, Martina, Kabra, Madhulika, David, Albert, Nijtmans, Leo, Chitayat, David, Tuysuz, Beyhan ORCID: 0000-0002-9620-5021, Brancati, Francesco, Mundlos, Stefan, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Morava, Eva, Wollnik, Bernd and Kornak, Uwe
(2013).
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Mol. Genet. Metab., 110 (3).
S. 352 - 362.
SAN DIEGO:
ACADEMIC PRESS INC ELSEVIER SCIENCE.
ISSN 1096-7206
Laugsch, Magdalena, Bartusel, Michaela, Rehimi, Rizwan, Alirzayeva, Hafiza, Karaolidou, Agathi, Crispatzu, Giuliano, Zentis, Peter, Nikolic, Milos ORCID: 0000-0003-0029-7601, Bleckwehl, Tore, Kolovos, Petros ORCID: 0000-0002-0787-6158, van Ijcken, Wilfred F. J., Saric, Tomo, Koehler, Katrin, Frommolt, Peter ORCID: 0000-0002-1966-8014, Lachlan, Katherine, Baptista, Julia and Rada-Iglesias, Alvaro
(2019).
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.
Cell Stem Cell, 24 (5).
S. 736 - 765.
CAMBRIDGE:
CELL PRESS.
ISSN 1875-9777