Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases
全外显子组测序在捷克儿科罕见病和未确诊疾病患者中的诊断效能和临床应用价值
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-79872-4
Slaba, Katerina; Pokorna, Petra; Jugas, Robin; Palova, Hana; Prochazkova, Dagmar; Aulicka, Stefania; Spanelova, Klara; Danhofer, Pavlina; Horak, Ondrej; Tuckova, Jana; Kleiblova, Petra; Gaillyova, Renata; Hrunka, Matej; Jouza, Martin; Pinkova, Blanka; Papez, Jan; Konecna, Petra; Zidkova, Jana; Stourac, Petr; Sterba, Jaroslav; Demlova, Regina; Demlova, Eva; Jabandziev, Petr; Slaby, Ondrej
