Daan M Panneman
4PUBLICATIONS
151CO-AUTHORS
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Publications (4)
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|Sep 27, 2025
Minigene Splice Assays Allow Pathogenicity Reclassification of <i>RPE65</i> Variants of Uncertain Significance.Daan M Panneman, Erica G M Boonen, Zelia Corradi
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jan 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma
|Jul 08, 2017
Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.D M Panneman, J A Smeitink, R J Rodenburg
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Frequent Collaborators
2 joint publications
Erica G M Boonen
2 joint publications
Susanne Roosing
2 joint publications
Zelia Corradi
1 joint publications
Nicole I Wolf
1 joint publications
Mathieu Quinodoz
1 joint publications
Kim Rodenburg
1 joint publications
Zuzana Cvackova
1 joint publications
Karolina Kaminska
1 joint publications
Suzanne E de Bruijn
1 joint publications
Ana Belén Iglesias-Romero
