Ana Töpf

2PUBLICATIONS
36CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (2)

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jul 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Alba Segarra-Casas, Vicente A Yépez, German Demidov

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