Kết quả tìm kiếm - Milda Reith
- Đang hiển thị 1 - 3 kết quả của 3
-
1
Therapy with voretigene neparvovec. How to measure success? Bằng Krunoslav Stingl, Melanie Kempf, Ronja Jung, Friederike Kortüm, Giulia Righetti, Milda Reith, Spyridon Dimopoulos, Saskia Ott, Susanne Kohl, Katarína Štingl
Được phát hành 2022Revisão -
2
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Bằng Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack
Được phát hành 2023Artigo -
3
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Bằng Reinhold E. Schmidt, Amy E. Pohodich, David G. Birch, Kaylie Webb-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 Héon, Hendrik P. N. Scholl, Lucas Janeschitz‐Kriegl, Elias I. Traboulsi, Wadih M. Zein, Brian P. Brooks, Catherine A. Cukras, Robert B. Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, José‐Alain Sahel, Michael B. Gorin, Maria M. van Genderen, Katarína Štingl, 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, U. U. Graf, Samuel Koller, Wolfgang Berger, Christina Gerth‐Kahlert, Molly Marra, Lesley Everett, Paul Yang, Mark E. Pennesi
Được phát hành 2025Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
Ophthalmology
Retinal
Aerospace engineering
Bioinformatics
Computational biology
Context (archaeology)
DNA sequencing
Engineering
Exome
Exome sequencing
Genome
Medical genetics
Mutation
Neuroscience
Optometry
Paleontology
Phenotype
Photopic vision
Proband
Psychology
Range (aeronautics)
Retinitis pigmentosa
Scotopic vision
Whole genome sequencing