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Author/Creator Stoltenburg, Corinna

1. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. (January 2022)

Authors:
Weiß, Claudia; Ziegler, Andreas; Becker, Lena-Luise; Johannsen, Jessika; Brennenstuhl, Heiko; Schreiber, Gudrun; Flotats-Bastardas, Marina; Stoltenburg, Corinna; Hartmann, Hans; Illsinger, Sabine; Denecke, Jonas; Pechmann, Astrid; Müller-Felber, Wolfgang; Vill, Katharina; Blaschek, Astrid; Smitka...
Journal:
Lancet
Issue:
Volume 6:Number 1(2022)
Page Start:
17
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗