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Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver
ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh
ORCID: 0000-0003-2841-147X and Netzer, Christian
(2015).
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta.
Am. J. Hum. Genet., 96 (3).
S. 432 - 440.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver
ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh
ORCID: 0000-0003-2841-147X and Netzer, Christian
(2015).
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta.
Am. J. Hum. Genet., 96 (3).
S. 432 - 440.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian
ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz
ORCID: 0000-0003-0017-8338, Gilissen, Christian
ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor
ORCID: 0000-0003-4496-244X and Netzer, Christian
(2019).
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am. J. Hum. Genet., 104 (4).
S. 749 - 758.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605