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个人简介
Prof. van der Maarel’s scientific interests focus on the genetic and epigenetic regulation of repetitive DNA in the human genome in relation to disease. His main research interest is FSHD, an adult muscle disease caused by genetic and epigenetic changes in a repetitive DNA structure on the tip of the long arm of chromosome 4. He also studies the Immunodeficiency, Centromere instability, and Facial anomalies (ICF) syndrome, a heterogenetic primary immunodeficiency caused by at least four different gene defects which result in epigenetic changes in repetitive structures in the genome. He has also made research contributions to other muscular dystrophies including OPMD and LGMD
研究兴趣
论文共 364 篇作者统计合作学者相似作者
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Olena Butenko, Stine Marie Jensen,Yvonne E. Fillié‐Grijpma, Robyn Verpalen,Jan J. Verschuuren,Silvère M. van der Maarel,Maartje G. Huijbers,Jaap J. Plomp
crossref(2024)
Richard Lemmers,Russell Butterfield, Patrick van der Vliet,Jan De Bleecker, W. L. Van der Pol,Corrie Erasmus, Marc D'Hooghe, Kristof Verhoeven,Judit Balog,Baziel van Engelen,Jeffrey Statland,Enrico Bugiardini,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 602-602
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Olena Butenko, Stine Marie Jensen,Yvonne E. Fillié‐Grijpma, Robyn Verpalen,Jan J. Verschuuren,Silvère M. van der Maarel,Maartje G. Huijbers,Jaap J. Plomp
crossref(2024)
EUROPEAN JOURNAL OF HUMAN GENETICSno. 11 (2024): 279-279
Emiliano Giardina,Pilar Camaño, Sarah Burton‐Jones,Gina Ravenscroft, Franclo Henning,Frederique Magdinier,Nienke van der Stoep,Patrick J. van der Vliet,Rafaëlle Bernard, Pedro J. Tomaselli,Mark R. Davis,Ichizo Nishino,
crossref(2024)
Richard J L F Lemmers, Russell Butterfield,Patrick J van der Vliet, Jan L de Bleecker,Ludo van der Pol, Diane M Dunn,Corrie E Erasmus, Marc D'Hooghe,Kristof Verhoeven,Judit Balog, Anne Bigot,Baziel van Engelen,
Human molecular genetics (2024)
HUMAN MOLECULAR GENETICSno. 3 (2024): 284-298
Emiliano Giardina,Pilar Camaño, Sarah Burton‐Jones,Gina Ravenscroft, Franclo Henning,Frederique Magdinier,Nienke van der Stoep,Patrick J. van der Vliet,Rafaëlle Bernard, Pedro J. Tomaselli,Mark R. Davis,Ichizo Nishino,
crossref(2024)
biorxiv(2023)
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