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Martin Koenighofer

2PUBLICATIONS
19CO-AUTHORS
NeurogeneticsGene mapping
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Publications (2)

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|Nov 29, 2022
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Alexandra Frohne, Martin Koenighofer, Hakan Cetin

|Apr 14, 2021
Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Martin Koenighofer, Thomas Parzefall, Alexandra Frohne

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Frequent Collaborators

2 joint publications

Thomas Parzefall

2 joint publications

Alexandra Frohne

2 joint publications

Christian Schoefer

2 joint publications

Franco Laccone

2 joint publications

Klemens Frei

1 joint publications

Elisabeth Frei

1 joint publications

Patricia Feil

1 joint publications

Trevor Lucas

1 joint publications

Hakan Cetin

1 joint publications

Michael Nieratschker

Frequent Collaborators

2 joint publications

Thomas Parzefall

2 joint publications

Alexandra Frohne

2 joint publications

Christian Schoefer

2 joint publications

Franco Laccone

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