未登录Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany新生儿筛查SMA-从试点项目到德国的全国筛查
Muller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Glaser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Roschinger, Wulf; Becker, Marc; Durner, Jurgen; Eggermann, Katja; Kolbel, Heike; Muller, Christine; Hannibal, Iris; Olgemoller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von Der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Kohler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina
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收藏Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jurgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike; Mueller-Felber, Wolfgang
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收藏Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Mueller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Durner, Juergen; Eggermann, Katja; Mueller, Christine; Hannibal, Iris; Olgemoeller, Bernd; Schara, Ulrike; Blaschek, Astrid; Koelbel, Heike
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收藏Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
Fleige, Tobias; Burggraf, Siegfried; Czibere, Ludwig; Haring, Julia; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Harms, Erik; Hohenfellner, Katharina; Durner, Juergen; Roeschinger, Wulf; Becker, Marc
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收藏One Year of Newborn Screening for SMA - Results of a German Pilot Project
Vill, Katharina; Koelbel, Heike; Schwartz, Oliver; Blaschek, Astrid; Olgemoeller, Bernhard; Harms, Erik; Burggraf, Siegfried; Roeschinger, Wulf; Durner, Juergen; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Schara, Ulrike; Jensen, Beate; Becker, Marc; Hohenfellner, Katharina; Mueller-Felber, Wolfgang
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收藏High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
Czibere, Ludwig; Burggraf, Siegfried; Fleige, Tobias; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Durner, Juergen; Roeschinger, Wulf; Hohenfellner, Katharina; Wirth, Brunhilde; Mueller-Felber, Wolfgang; Vill, Katharina; Becker, Marc
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收藏Dendrite growth in undercooled Al-rich Al-Ni melts measured on Earth and in Space
Herlach, D. M.; Burggraf, S.; Reinartz, M.; Galenko, P. K.; Rettenmayr, M.; Gandin, Ch-A; Henein, H.; Mullis, A.; Ilbagi, A.; Valloton, J.
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收藏Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested
Schuetz, Catharina; Pannicke, Ulrich; Jacobsen, Eva-Maria; Burggraf, Siegfried; Albert, Michael H.; Hoenig, Manfred; Niehues, Tim; Feyen, Oliver; Ehl, Stephan; Debatin, Klaus-Michael; Friedrich, Wilhelm; Schulz, Ansgar S.; Schwarz, Klaus
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