Anzahl der Publikationen: 7
Zeitschriftenartikel
Schwartz, Oliver; Koelbel, Heike; Blaschek, Astrid; Glaeser, Dieter; Burggraf, Siegfried; Roeschinger, Wulf; Schara, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 3: S. 389-396
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
Czibere, Ludwig; Burggraf, Siegfried; Fleige, Tobias; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Durner, Jürgen; Roeschinger, Wulf; Hohenfellner, Katharina; Wirth, Brunhilde; Müller-Felber, Wolfgang; Vill, Katharina und Becker, Marc
(2020):
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
In: European Journal of Human Genetics, Bd. 28, Nr. 1: S. 23-30
Fleige, Tobias; Burggraf, Siegfried; Czibere, Ludwig; Haring, Julia; Glueck, Birgit; Keitel, Lisa Marie; Landt, Olfert; Harms, Erik; Hohenfellner, Katharina; Durner, Jürgen; Roeschinger, Wulf und Becker, Marc
(2020):
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
In: European Journal of Human Genetics, Bd. 28, Nr. 2: S. 193-201
Hohenfellner, Katharina; Bergmann, Carsten; Fleige, Tobias; Janzen, Nils; Burggraf, Siegfried; Olgemoeller, Bernd; Gahl, William A.; Czibere, Ludwig; Froschauer, Sonja; Roeschinger, Wulf; Vill, Katharina; Harms, Erik und Nennstiel, Uta
(2019):
Molecular based newborn screening in Germany: Follow-up for cystinosis.
In: Molecular Genetics and Metabolism Reports, Bd. 21, 100514
Diese Liste wurde am
Sat Dec 21 18:25:37 2024 CET
erstellt.