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Journal Article
Burtscher, Verena, Schicker, Klaus 
ORCID: 0000-0002-3068-7830, Novikova, Elena, Poehn, Birgit, Stockner, Thomas ORCID: 0000-0002-7071-8283, Kugler, Christof ORCID: 0000-0003-0058-3106, Singh, Anamika, Zeitz, Christina ORCID: 0000-0002-3510-1712, Lancelot, Marie-Elise, Audo, Isabelle ORCID: 0000-0003-0698-5309, Leroy, Bart Peter, Freissmuth, Michael ORCID: 0000-0001-9398-1765, Herzig, Stefan, Matthes, Jan ORCID: 0000-0003-2754-1555 and Koschak, Alexandra
(2014).
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Biochim. Biophys. Acta-Biomembr., 1838 (8).
S. 2053 - 2066.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 0006-3002
Coppieters, Frauke, Bauwens, Miriam, Karlstetter, Marcus, Vleminckx, Kris, Van der Eecken, Morgane, Langmann, Thomas, Leroy, Bart Peter, Meire, Francoise and De Baere, Elfride ORCID: 0000-0002-5609-6895
(2015).
Mutation of RCBTB1 in a severe syndromic retinal ciliopathy.
Invest. Ophthalmol. Vis. Sci., 56 (7).
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783
Van Cauwenbergh, Caroline, Vleminckx, Kris, Coppieters, Frauke, Karlstetter, Marcus, Langmann, Thomas, Manes, Gael, Hamel, Christian P., Leroy, Bart Peter and De Baere, Elfride ORCID: 0000-0002-5609-6895
(2015).
SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein.
Invest. Ophthalmol. Vis. Sci., 56 (7).
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783
Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Leroy, Bart Peter, Coppieters, Frauke, Depasse, Fanny, Langmann, Thomas and De Baere, Elfride ORCID: 0000-0002-5609-6895
(2015).
Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa.
Invest. Ophthalmol. Vis. Sci., 56 (7).
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783