Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
诊断性基因组测序提高诊断率：一项针对 1000 名患有遗传性眼病的患者的前瞻性单中心研究
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg-2023-109470
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 Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Pau
