Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D.
Estévez-Arias B, et al. Among authors: esteve codina a.
Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39333429