Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
表型驱动的基因组学可提高对未确诊神经肌肉疾病患儿的诊断水平
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01699-4
Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknárová, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yépez, Vicente A; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmüller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel