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Stephan Waldmüller

2PUBLICATIONS

11CO-AUTHORS

Medical molecular engineering of nucleic acids and proteinsEpigenetics (incl. genome methylation and epigenomics)

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Publications (2)

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|Apr 18, 2024

Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Felix Distelmaier, Abdullah Sezer, Christina Helm

|Apr 04, 2022

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Marieke M van der Knoop, Reza Maroofian, Yuko Fukata

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Frequent Collaborators

1 joint publications

Marieke M van der Knoop

1 joint publications

Anna Elina Lehesjoki

1 joint publications

Rita Horvath

1 joint publications

Barbara Vona

1 joint publications

Vykuntaraju K Gowda

1 joint publications

Fowzan S Alkuraya

1 joint publications

Majid Alfadhel

1 joint publications

Mariasavina Severino

1 joint publications

Henry Houlden

1 joint publications

Felix Distelmaier

Frequent Collaborators

1 joint publications

Marieke M van der Knoop

1 joint publications

Anna Elina Lehesjoki

1 joint publications

Rita Horvath

1 joint publications

Barbara Vona

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