Search Results - Milda Reith

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  1. 1

    Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype by Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh

    Published in Molecular Genetics & Genomic Medicine (2023-03-01)
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  2. 2

    Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies by Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl

    Published in BMC Ophthalmology (2025-04-01)
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  3. 3

    Defining reference values of arterioles in healthy individuals for studies with adaptive optics imaging by Friederike C. Kortuem, David A. Merle, David A. Merle, David A. Merle, Milda Reith, Laura Kuehlewein, Ronja Jung, Saskia Holocher, Krunoslav Stingl, Krunoslav Stingl, Katarina Stingl, Katarina Stingl, Melanie Kempf, Melanie Kempf

    Published in Frontiers in Ophthalmology (2024-03-01)
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  4. 4

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes by Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi

    Published in npj Genomic Medicine (2025-04-01)
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