Universität zu Köln

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

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

Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen ORCID: 0000-0002-9418-3287, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit ORCID: 0000-0003-3524-661X, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei ORCID: 0000-0002-4177-709X, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping and Wang, Xia ORCID: 0000-0002-7750-1167 (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am. J. Hum. Genet., 103 (1). S. 154 - 163. CAMBRIDGE: CELL PRESS. ISSN 1537-6605