Examinant per Autoria "O'Heir, Emily"
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Ítem Accés Obert Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement(Wiley, 2022) 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