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2017
Costantini, Alice, Vuorimies, Ilkka, Makitie, Riikka, Mayranpaa, Mervi K., Becker, Jutta, Pekkinen, Minna, Valta, Helena, Netzer, Christian, Kampe, Anders, Taylan, Fulya 
ORCID: 0000-0002-2907-0235, Jiao, Hong and Makitie, Outi
(2017).
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am. J. Med. Genet. A, 173 (3).
S. 806 - 809.
HOBOKEN:
WILEY.
ISSN 1552-4833
Wang, Haicui, Salter, Claire G., Refai, Osama ORCID: 0000-0002-5870-5236, Hardy, Holly, Barwick, Katy E. S., Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A., Harlalka, Gaurav, Taylan, Fulya ORCID: 0000-0002-2907-0235, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H., Karakaya, Mert, Stueve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A., Abdul-Rahman, Omar A., Chilton, John, Blakely, Randy D., Baple, Emma L., Cirak, Sebahattin and Crosby, Andrew H.
(2017).
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain, 140.
S. 2838 - 2851.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
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