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Volk, Alexander E., Hedergott, Andrea 
ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian
(2021).
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum. Genet., 140 (8).
S. 1157 - 1169.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea ORCID: 0000-0002-6398-3919, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Koentges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B. and Habbig, Sandra
(2021).
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Kidney Int. Rep., 6 (5).
S. 1368 - 1379.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 2468-0249