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Cost-effective Sequence Analysis of 113 Genes in 1,192 Probands with Retinitis Pigmentosa and Leber Congenital Amaurosis.

Daan M. Panneman,Rebekkah J. Hitti-Malin, Lara K. Holtes,Suzanne E. de Bruijn,Janine Reurink,Erica G. M. Boonen,Muhammad Imran Khan,Manir Ali,Sten Andreasson,Elfride De Baere,Sandro Banfi,Miriam Bauwens,Tamar Ben-Yosef,Beatrice Bocquet,Marieke De Bruyne,Berta de la Cerda,Frauke Coppieters,Pietro Farinelli,Thomas Guignard,Chris F. Inglehearn,Marianthi Karali,Ulrika Kjellstrom,Robert Koenekoop,Bart de Koning, Bart P. Leroy,Martin McKibbin,Isabelle Meunier,Konstantinos Nikopoulos,Koji M. Nishiguchi,James A. Poulter,Carlo Rivolta,Enrique Rodriguez de la Rua, Patrick Saunders,Francesca Simonelli,Yasmin Tatour,Francesco Testa,Alberta A. H. J. Thiadens,Carmel Toomes,Anna M. Tracewska,Hoai Viet Tran,Hiroaki Ushida,Veronika Vaclavik,Virginie J. M. Verhoeven,Maartje van de Vorst,Christian Gilissen,Alexander Hoischen,Frans P. M. Cremers,Susanne Roosing

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY（2023）

引用 14|浏览13
关键词
inherited retinal diseases,targeted gene sequencing,cost-effective,high-throughput,smMIPs
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