Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD G...

por Erbe, Leoni S., Hoffjan, Sabine, Janßen, Sören, Kneifel, Moritz, Krause, Karsten, Gerding, Wanda M., Döring, Kristina, Güttsches, Anne-Katrin, Roos, Andreas, Buena Atienza, Elena, Gross, Caspar, Lücke, Thomas, Nguyen, Hoa Huu Phuc, Vorgerd, Matthias, Köhler, Cornelia
Publicado 2023