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Sabine Rudnik-Schöneborn

5PUBLICATIONS

30CO-AUTHORS

Social epidemiologyMedical biochemistry - lipidsMedical infection agents (incl. prions)Molecular targetsFoetal development and medicine

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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

Frequent Collaborators

2 joint publications

Mariasavina Severino

2 joint publications

Reza Maroofian

2 joint publications

Rauan Kaiyrzhanov

2 joint publications

Henry Houlden

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