Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

por Budde, Birgit S., Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, Brömsen, Jürgen, Dermintzoglou, Anastassia, Wieczorek, Marcus, May, Erik, Kirst, Elisabeth, Selignow, Carmen, Rackebrandt, Kirsten, Müller, Melanie, Goody, Roger S., Vosberg, Hans-Peter, Nürnberg, Peter, Scheffold, Thomas
Publicado 2007

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

por Posch, Maximilian G., Waldmuller, Stephan, Müller, Melanie, Scheffold, Thomas, Fournier, David, Andrade-Navarro, Miguel A., De Geeter, Bernard, Guillaumont, Sophie, Dauphin, Claire, Yousseff, Dany, Schmitt, Katharina R., Perrot, Andreas, Berger, Felix, Hetzer, Roland, Bouvagnet, Patrice, Özcelik, Cemil
Publicado 2011

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

por 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
Publicado 2023

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

por van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Publicado 2022