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Uta Matysiak
Uta Matysiak
University of Freiburg
Biology
Newborn screening
Mutation
Internal medicine
Endocrinology
4
Papers
17
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A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
2021
Journal of pediatric genetics
Francisco Cammarata-Scalisi
Uta Matysiak
Colin E. Willoughby
Gunda Ruzaike
Antonio Cárdenas Tadich
Maykol Araya Castillo
Carmen Zara-Chirinos
Ana Bracho
Andrea Avendaño
Houweyda Jilani
Michele Callea
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Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
2021
Journal of Inherited Metabolic Disease
Sara Tucci
Christine Wagner
Sarah C. Grünert
Uta Matysiak
Natalie Weinhold
Jeannette Klein
Francesco Porta
Marco Spada
Andrea Bordugo
Giulia Rodella
Francesca Furlan
Anna Sajeva
Francesca Menni
Ute Spiekerkoetter
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Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
2021
Human Molecular Genetics
Lorenz M Bell
Annegret Holm
Uta Matysiak
Wolfgang Driever
Jochen Rößler
Denny Schanze
Ilse Wieland
Charlotte M. Niemeyer
Martin Zenker
Friedrich G. Kapp
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The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
2018
Journal of Inherited Metabolic Disease
Julia Hesse
Carina Braun
Sidney Behringer
Uta Matysiak
Ute Spiekerkoetter
Sara Tucci
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Citations (16)
1