Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings - Schmidt, Axel; Danyel, Magdalena; Grundmann-Hauser, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Schlapakow, Elena; Hempel, Maja; Tibelius, Alexandra; Schwaibold, Eva; Schaaf, Christian P.; et al. (Nature genetics, 2024)
Veröffentlicht: 22. Juli 2024