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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2022
Blaschek, Astrid; Koelbel, Heike; Schwartz, Oliver; Koehler, Cornelia; Glaeser, Dieter; Eggermann, Katja; Hannibal, Iris; Schara-Schmidt, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 5: S. 597-605
Lischka, Annette; Lassuthova, Petra; Çakar, Arman; Record, Christopher J.; Lent, Jonas van; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Hübner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M. und Kurth, Ingo
(2022):
Genetic pain loss disorders.
In: Nature Reviews Disease Primers, Bd. 8, Nr. 1, 41
2021
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike und Mueller-Felber, Wolfgang
(2021):
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 153
2020
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Bd. 95, Nr. 24, E3163-E3179
Eggermann, Katja; Glaeser, Dieter; Abicht, Angela und Wirth, Brunhilde
(2020):
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy.
In: Medizinische Genetik, Bd. 32, Nr. 3: S. 263-272