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2019
Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia
ORCID: 0000-0002-9313-8257, Rohrbach, Marianne
ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian
(2019).
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am. J. Hum. Genet., 105 (4).
S. 836 - 844.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2016
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