Sabine Rudnik-Schöneborn
5PUBLICATIONS
30CO-AUTHORS
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Publications (5)
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|Mar 03, 2026
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.Kathrin Taxer, Katharina Wimmer, Karin Wadt
|Nov 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin
|Jul 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali
|Jul 30, 2021
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.Héctor Hugo Manzanilla-Romero, Denisa Weis, Simon Schnaiter
|May 14, 2020
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.S Rudnik-Schöneborn, S Thiele, M C Walter
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Frequent Collaborators
2 joint publications
Mariasavina Severino
2 joint publications
Reza Maroofian
2 joint publications
Rauan Kaiyrzhanov
2 joint publications
Henry Houlden
2 joint publications
Stephanie Efthymiou
1 joint publications
Gaurav K Varshney
1 joint publications
Katharina Wimmer
1 joint publications
Simon Schnaiter
1 joint publications
Johannes Zschocke
1 joint publications
Mina Zamani
