Microstructural evolution and superelastic properties of ultrafine-grained NiTi-based shape memory alloy via sintering of amorphous ribbon precursor

Autor: W.S. Cai, H.Z. Lu, H.Z. Li, Z. Liu, H.B. Ke, W.H. Wang, C. Yang

Publikováno v: Journal of Materials Science & Technology. 138:80-92

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d3933a394f61ca1cb974813ad2ae5bfa
https://doi.org/10.1016/j.jmst.2022.08.011

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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Autor: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Publikováno v: Human Genetics and Genomics Advances, 4(2):100181. Cell Press
HGG Advances, 4, 2
HGG Advances, 4
Reurink, J, Weisschuh, N, Garanto, A, Dockery, A, van den Born, L I, Fajardy, I, Haer-Wigman, L, Kohl, S, Wissinger, B, Farrar, G J, Ben-Yosef, T, Pfiffner, F K, Berger, W, Weener, M E, Dudakova, L, Liskova, P, Sharon, D, Salameh, M, Offenheim, A, Heon, E, Girotto, G, Gasparini, P, Morgan, A, Bergen, A A, ten Brink, J B, Klaver, C C W, Tranebjærg, L, Rendtorff, N D, Vermeer, S, Smits, J J, Pennings, R J E, Aben, M, Oostrik, J, Astuti, G D N, Corominas Galbany, J, Kroes, H Y, Phan, M, van Zelst-Stams, W A G, Thiadens, A A H J, Verheij, J B G M, van Schooneveld, M J, de Bruijn, S E, Li, C H Z, Hoyng, C B, Gilissen, C, Vissers, L E L M, Cremers, F P M, Kremer, H, van Wijk, E & Roosing, S 2023, ' Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100181 . https://doi.org/10.1016/j.xhgg.2023.100181

A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-associated di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::738005d80cd108af5fb405557195a4c1
https://hdl.handle.net/2066/290499

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