Auflistung Universitätsbibliographie nach Autor "Reith, Milda"

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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)
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)
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)

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