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Journal Article
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
Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan and Baehring, Robert
(2021).
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum. Mol. Genet., 30 (23).
S. 2300 - 2315.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083