|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
Zeitschriftenartikel
Gangfuss, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stueve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Foerster, Fabian; Abicht, Angela; Schaenzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas und Della Marina, Adela
(2022):
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
In: Human Mutation, Bd. 43, Nr. 4: S. 477-486
Shai, Sonu; Perez-Becker, Ruy; Andres, Oliver; Bakhtiar, Shahrzad; Bauman, Ulrich; von Bernuth, Horst; Classen, Carl-Friedrich; Dueckers, Gregor; El-Helou, Sabine M.; Gangfuss, Andrea; Ghosh, Sujal; Grimbacher, Bodo; Hauck, Fabian; Hoenig, Manfred; Husain, Ralf A.; Kindle, Gerhard; Kipfmueller, Florian; Klemann, Christian; Krueger, Renate; Lainka, Elke; Lehmberg, Kai; Lohrmann, Florens; Morbach, Henner; Naumann-Bartsch, Nora; Oommen, Prasad Thomas; Schulz, Ansgar; Seidemann, Kathrin; Speckmann, Carsten; Sykora, Karl-Walter; Kries, Rüdiger von und Niehues, Tim
(2020):
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit fur Seltene Padiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Padiatrische Immunologie.
In: Journal of Clinical Immunology, Bd. 40, Nr. 5: S. 708-717
Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel und Diaz-Manera, Jordi
(2020):
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
In: Brain, Bd. 143: S. 2696-2708