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Journal Article
Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Mueller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J. and Issa, Peter Charbel 
ORCID: 0000-0002-0351-6673
(2018).
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Sci Rep, 8.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322
Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Mueller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673
(2018).
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PLoS One, 13 (12).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Yigit, Goekhan, Brown, Karen E., Kayserili, Hulya ORCID: 0000-0003-0376-499X, Pohl, Esther, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Zahnleiter, Diana, Rosser, Elisabeth, Boegershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nuernberg, Gudrun, Nuernberg, Peter, Rauch, Anita ORCID: 0000-0003-2930-3163, Li, Yun, Thiel, Christian Thomas and Wollnik, Bernd
(2015).
Mutations in CDK5RAP2 cause Seckel syndrome.
Mol. Genet. Genom. Med., 3 (5).
S. 467 - 481.
HOBOKEN:
WILEY.
ISSN 2324-9269