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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

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