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Journal description
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Details for article 10 of 10 found articles
| Title: |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction |
| Author: |
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. Corominas Galbany, Jordi 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 |
| Appeared in: |
Human genetics and genomics advances |
| Paging: | Volume 4 () nr. 2 pages p. |
| Year: |
2023 |
| Contents: | |
| Publisher: |
The Author(s) |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 10 of 10 found articles
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