Browsing Universitätsbibliographie by Author "Reith, Milda"

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A morphometric analysis of the retinal arterioles with adaptive optics imaging in RPE65-associated retinal dystrophy after treatment with voretigene neparvovec

Kortuem, Friederike C.; Kempf, Melanie; Merle, David A.; Kuehlewein, Laura; Pohl, Lisa; Reith, Milda; Jung, Ronja; Ott, Saskia; Stingl, Krunoslav; Stingl, Katarina (2024)
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole (2022)
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype

Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole (2023)
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia

Jung, Ronja; Kempf, Melanie; Pohl, Lisa; Kortuem, Friederike; Reith, Milda; Kelbsch, Carina; Kohl, Susanne; Wilhelm, Helmut; Wilhelm, Barbara; Stingl, Katarina; Stingl, Krunoslav (2023)
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

Kelbsch, Carina; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Reith, Milda; Kuehlewein, Laura; Kohl, Susanne; Strasser, Torsten; Peters, Tobias; Wilhelm, Helmut; Wilhelm, Barbara; Stingl, Krunoslav; Stingl, Katarina (2023)
Therapy with voretigene neparvovec. How to measure success?

Stingl, Krunoslav; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Righetti, Giulia; Reith, Milda; Dimopoulos, Spyridon; Ott, Saskia; Kohl, Susanne; Stingl, Katarina (2023)

Now showing items 1-7 of 7

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