Sabine Rudnik-Schöneborn

8PUBLICATIONS
36CO-AUTHORS
Obstetrics and gynaecologyIndustrial and organisational psychology (incl. human factors)Social epidemiologyMedical biochemistry - lipidsMedical infection agents (incl. prions)
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Publications (8)

|Nov 06, 2026
Reproductive carrier screening: perspectives for a future implementation in Germany.

|Jul 28, 2026
Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

|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

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Frequent Collaborators

2 joint publications

Mariasavina Severino

2 joint publications

Johannes Zschocke

2 joint publications

Gunda Schwaninger

2 joint publications

Reza Maroofian