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Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (2025).
Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.
PMID: 40168954, DOI: 10.1159/000545606, S2CID: 277495644. Ophthalmologica:1-16. Epub ahead of Print.
Maggi, Kevin (2025).
Investigating the Role of Norrin in Neuroretinal Development.
DOI: 10.5167/uzh-276556. Dissertation (cumulative). University of Zurich, Faculty of Science. 2025.