未登录High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing利用短读长全基因组测序进行强直性肌营养不良症2型的超高分辨率重复结构分析及诊断
Lojova, Ingrid; Kucharik, Marcel; Zatkova, Andrea; Balaz, Andrej; Pos, Zuzana; Tarova, Eva Tothova; Kadasi, Ludevit; Budis, Jaroslav; Szemes, Tomas; Radvanszky, Jan .png)
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收藏AlkaptonuriaBernardini, Giulia; Braconi, Daniela; Zatkova, Andrea; Sireau, Nick; Kujawa, Mariusz J.; Introne, Wendy J.; Spiga, Ottavia; Geminiani, Michela; Gallagher, James A.; Ranganath, Lakshminarayan R.; Santucci, Annalisa 分享 收藏 Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variationsSladecek, Tomas; Gaziova, Michaela; Kucharik, Marcel; Zatkova, Andrea; Pos, Zuzana; Pos, Ondrej; Krampl, Werner; Tomkova, Erika; Hyblova, Michaela; Minarik, Gabriel; Radvanszky, Jan; Budis, Jaroslav; Szemes, Tomas 分享 收藏 分享 收藏 分享 收藏 
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