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Frederik Braun
Frederik Braun
University of Duisburg-Essen
Phenotype
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Asymptomatic carrier
Axial skeleton
Skeletal disorder
2
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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
2021
International Journal of Molecular Sciences
Frederik Braun
Andreas Hentschel
Albert Sickmann
Theodore Marteau
Swantje Hertel
Fabian Förster
Holger Prokisch
Matias Wagner
Saskia B. Wortmann
Adela Della Marina
Heike Kölbel
Andreas Roos
Ulrike Schara-Schmidt
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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process
2021
Molecular Genetics & Genomic Medicine
Frederik Braun
Andrea Gangfuß
Petra Stöbe
Tobias B. Haack
Bernd Schweiger
Andreas Roos
Ulrike Schara
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