Additional file 1 of Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Name: Additional file 1 of Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Creator: van den Heuvel, Simone; Kleefstra, Tjitske; Kamsteeg, Erik-Jan; Pennings, Maartje; Gilissen, Christian; Vissers, Lisenka E. L. M.; Nelen, Marcel; Derks, Ronny; Wieskamp, Nienke; Schieving, Jolanda H.; Brunner, Han G.; Willemsen, Michèl A. A. P.; Hofste, Tom; Pfundt, Rolph; Galbany, Jordi Corominas; de Wijs, Ilse; Schobers, Gaby; Yntema, Helger G.
Published: 2022-06-17 00:00:00
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Figshare2022-06-17 更新2026-04-08 收录

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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Reanalysis_of_exome_negative_patients_with_rare_disease_a_pragmatic_workflow_for_diagnostic_applications/20088149/1

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Additional file 1: Table S1. The evolution of diagnostic yield; detailed overview of all 103 previous unsolved cases.

提供机构：

van den Heuvel, Simone; Kleefstra, Tjitske; Kamsteeg, Erik-Jan; Pennings, Maartje; Gilissen, Christian; Vissers, Lisenka E. L. M.; Nelen, Marcel; Derks, Ronny; Wieskamp, Nienke; Schieving, Jolanda H.; Brunner, Han G.; Willemsen, Michèl A. A. P.; Hofste, Tom; Pfundt, Rolph; Galbany, Jordi Corominas; de Wijs, Ilse; Schobers, Gaby; Yntema, Helger G.

创建时间：

2022-06-17