Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Falb, Ruth J, Müller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Stöbe, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmüller, Stephan, Beck-Wödl, Stefanie, Gläser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, Haack, Tobias B
Published in Journal of medical genetics (01.01.2023)
Published in Journal of medical genetics (01.01.2023)
Get full text
Journal Article
Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression
Harder, A, Jendroska, K, Kreuz, F, Wirth, T, Schafranka, C, Karnatz, N, Théallier-Janko, A, Dreier, J, Lohan, K, Emmerich, D, Cervós-Navarro, J, Windl, O, Kretzschmar, H A, Nürnberg, P, Witkowski, R
Published in American journal of medical genetics (03.12.1999)
Published in American journal of medical genetics (03.12.1999)
Get more information
Journal Article