Authors: Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Authors: Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Superior Title: nlmid: 101266602 ; essn: 1750-1172
Subject Terms: Connective tissue disorder, ER-stress, Fibroblast proteomics, Focal dermal hypoplasia, Goltz syndrome, Lamin a/c, Protein-serine O-palmitoleoyltransferase porcupine, Acyltransferases, Female, Humans, Male, Membrane Proteins, Mutation, Phenotype
File Description: application/pdf
Authors: Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Authors: Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Subject Terms: Fibroblast cytoskeleton, Fibroblast electron microscopy, Fibroblast filopodia, Fibroblast proteomics, NEDHFBA, PPP1R21, Proteasome, Humans, Proteasome Endopeptidase Complex, Speech, Proteomics, Muscle Weakness, Mutation, Protein Phosphatase 1, Actins, Phenotype
File Description: application/pdf; application/zip; text/xml
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, Intellectual Disability, Muscle, Skeletal, Mutation, Pedigree, Phenotype, Proteomics, Siblings, Exome Sequencing
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
File Description: application/pdf; text/xml