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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
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论文共 368 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
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 602-602
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Venugopalan Y. Vishnu, Richard J. L. F. Lemmers,Alisha Reyaz, Rinkle Mishra, Tanveer Ahmad,Patrick J. van der Vliet, Marcelina M. Kretkiewicz,William L. Macken,Stephanie Efthymiou,Natalia Dominik,Jasper M. Morrow,Rohit Bhatia,
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
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Stephanie Efthymiou,Venugopalan Y. Vishnu, Richard Lemmers,Lindsay Wilson,Patrick J. van der vliet,Natalia Dominik,Benedetta Perone, Rinkle Mishra,Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia,M. V. Padma Srivastava,
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,
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Chao-Jen Wong,Seth D. Friedman,Lauren Snider,Sean R. Bennett,Takako Jones,Peter L. Jones,Dennis W. W. Shaw,Silvia S. Blemker,Lara Riem, Olivia Ducharme,Richard J. F. L. Lemmers,Silvere M. van der Maarel,
HUMAN MOLECULAR GENETICSno. 8 (2024): 698-708
Emiliano Giardina,Pilar Camano, Sarah Burton-Jones,Gina Ravenscroft,Franclo Henning,Frederique Magdinier,Nienke van der Stoep,Patrick J. van der Vliet,Rafaelle Bernard, Pedro J. Tomaselli, Mark R. Davis,Ichizo Nishino,
CLINICAL GENETICS (2024)
Olena Butenko, Stine Marie Jensen,Yvonne E. Fillie-Grijpma, Robyn Verpalen,Jan J. Verschuuren,Silvere M. van der Maarel,Maartje G. Huijbers,Jaap J. Plomp
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