Authors: Gangfuß, Andrea, Czech, Artur, Hentschel, Andreas, Münchberg, Ute, Horvath, Rita, Töpf, Ana, O'Heir, Emily, Lochmüller, Hanns, Stehling, Florian, Kiewert, Cordula, Sickmann, Albert, Kuechler, Alma, Kaiser, Frank J, Kölbel, Heike, Christiansen, Jon, Schara-Schmidt, Ulrike, Roos, Andreas
Subject Terms: KIAA1033, WASHC4, coherent anti-Stokes Raman scattering microscopy, dysmorphisms, fibroblast proteomics, intellectual disability, muscle autophagy, valosin-containing protein, Child, Developmental Disabilities, Humans, Muscle, Skeletal, Mutation, Pedigree, Phenotype, Proteomics, Siblings, Exome Sequencing
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