Anika Leubauer

3PUBLICATIONS
18CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesToxicology (incl. clinical toxicology)
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Publications (3)

|Jan 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Aida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali

|Jul 11, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

Pilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira

|Jun 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

Maha S Zaki, Andrea Accogli, Ghayda Mirzaa

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Frequent Collaborators

2 joint publications

Christian Beetz

2 joint publications

Aida M Bertoli-Avella

2 joint publications

Peter Bauer

1 joint publications

Maha S Zaki