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David Kasper

2PUBLICATIONS
5CO-AUTHORS
Gene and molecular therapyMedical infection agents (incl. prions)
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Publications (2)

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|Oct 16, 2025
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Akash Singh, John Wyatt, Marie Théaudin

|Apr 14, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Sukirthini Balendran-Braun, Ursula Vinatzer, Sandra Liebmann-Reindl

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Frequent Collaborators

1 joint publications

Sukirthini Balendran-Braun

1 joint publications

Petra Oliva

1 joint publications

Akash Singh

1 joint publications

Marie Théaudin

1 joint publications

Chafic Karam

Frequent Collaborators

1 joint publications

Sukirthini Balendran-Braun

1 joint publications

Petra Oliva

1 joint publications

Akash Singh

1 joint publications

Marie Théaudin

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