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Journal Article
Vasileiou, Georgia 
ORCID: 0000-0002-1993-1134, Vergarajauregui, Silvia ORCID: 0000-0002-9247-6123, Endele, Sabine, Popp, Bernt ORCID: 0000-0002-3679-1081, Buettner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmueller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renee, Cho, Megan T., Thiel, Christian T., Luedecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo ORCID: 0000-0001-6399-6528, Wilkie, Andrew O. M., Wieczorek, Dagmar, Engel, Felix B. ORCID: 0000-0003-2605-3429 and Reis, Andre ORCID: 0000-0002-6301-6363
(2018).
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am. J. Hum. Genet., 102 (3).
S. 468 - 480.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Gonzalez-Sanchez, Paloma, Pla-Martin, David, Martinez-Valero, Paula, Rueda, Carlos B., Calpena, Eduardo ORCID: 0000-0001-6399-6528, del Arco, Araceli, Palau, Francesc ORCID: 0000-0002-8635-5421 and Satrustegui, Jorgina
(2017).
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.
Sci Rep, 7.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322