Zobrazeno 1 - 10
of 472
pro vyhledávání: '"A. Reurink"'
Autor:
Wendt, Hans David, Yaltur, I. Sena, Reurink, Dennis M., Thege, Clara, Kormelinck, Kaspar Groot, de Grooth, Joris
Publikováno v:
In Journal of Environmental Chemical Engineering August 2024 12(4)
Autor:
Paget, Liam D.A., Sierevelt, Inger N., Tol, Johannes L., Kerkhoffs, Gino M.M.J., Reurink, Gustaaf
Publikováno v:
In Journal of ISAKOS October 2023 8(5):345-351
Autor:
Suskens, Jozef J.M., Maas, Huub, van Dieën, Jaap H., Kerkhoffs, Gino M.M.J., Goedhart, Edwin A., Tol, Johannes L., Reurink, Gustaaf
Publikováno v:
Journal of Applied Biomechanics; Dec2023, Vol. 39 Issue 6, p377-387, 11p
Autor:
Juliette C. van Hattum, MD, Sjoerd M. Verwijs, BSc, P. Jeff Senden, MD, PhD, Jessica L. Spies, BSc, S. Matthijs Boekholdt, MD, PhD, Maarten Groenink, MD, PhD, Nicole M. Panhuyzen-Goedkoop, MD, Albert R. Willems, MD, PhD, Ingmar Knobbe, MD, Nicolaas A. Blom, MD, PhD, Cornelis A.C.M. Wijne, MD, Gustaaf Reurink, MD, PhD, Saskia N. van der Crabben, MD, PhD, Nick R. Bijsterveld, MD, PhD, Evert A.L.M. Verhagen, MD, PhD, Yigal M. Pinto, MD, PhD, Arthur A.M. Wilde, MD, PhD, Harald T. Jørstad, MD, PhD
Publikováno v:
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 6, Iss 6, Pp 525-535 (2022)
Objective: To systematically investigate and document the infrastructure, practices, recommendations, and clinical consequences of a structured, organized sports cardiology multidisciplinary team (MDT) for athletes and patients who wish to engage in
Externí odkaz:
https://doaj.org/article/605f6c679a2e4a0ba6dce258fa02fec9
Autor:
de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Ferenc Kovács, Árpád, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R., Vissers, Lisenka E.L.M., van den Born, L. Ingeborgh, Gilissen, Christian, Cremers, Frans P.M., Hoischen, Alexander, Neveling, Kornelia, Roosing, Susanne
Publikováno v:
In Genetics in Medicine March 2023 25(3)
Autor:
Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Galbany, Jordi Corominas, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
Publikováno v:
In Human Genetics and Genomics Advances January 2023
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
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Autor:
van Hattum, Juliette C., Verwijs, Sjoerd M., Senden, P. Jeff, Spies, Jessica L., Boekholdt, S. Matthijs, Groenink, Maarten, Panhuyzen-Goedkoop, Nicole M., Willems, Albert R., Knobbe, Ingmar, Blom, Nicolaas A., Wijne, Cornelis A.C.M., Reurink, Gustaaf, van der Crabben, Saskia N., Bijsterveld, Nick R., Verhagen, Evert A.L.M., Pinto, Yigal M., Wilde, Arthur A.M., Jørstad, Harald T.
Publikováno v:
In Mayo Clinic Proceedings: Innovations, Quality & Outcomes December 2022 6(6):525-535
Autor:
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homoz
Externí odkaz:
https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783