Rick van Minkelen
3PUBLICATIONS
16CO-AUTHORS
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Publications (3)
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|Apr 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.Hannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist
|Jan 11, 2025
Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach.Biagio de Brons, Britt Dhaenens, Rick van Minkelen
|Dec 16, 2024
Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.Julie F H De Houwer, Elise G P Dopper, Ana Rajicic
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Frequent Collaborators
1 joint publications
Julie F H De Houwer
1 joint publications
Elise G P Dopper
1 joint publications
Ana Rajicic
1 joint publications
Marina Arcaro
1 joint publications
Daniela Galimberti
1 joint publications
Guido J Breedveld
1 joint publications
Martina Wilke
1 joint publications
Lize C Jiskoot
1 joint publications
John C van Swieten
1 joint publications
Laura Donker Kaat
