3 research outputs found
Additional file 2: Table S8. of Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
Concordance between a software-identified top match and whether all three clinical geneticists would have considered this diagnosis based on the image alone. Table S9. Concordance between a software-identified match within the top five closest matches and whether all three clinical geneticists would have considered this diagnosis based on the image alone. Table S10. Concordance between a software-identified match within the top five closest matches and whether all three clinical geneticists would have considered this diagnosis based on the image alone. (DOCX 17 kb
Additional file 1: of Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
Imagus FRT Algorithm Performancev1.1.BL.pdf. Data on Face Recognition Algorithm Performance on Face Recognition Grand Challenge (FRGC) Benchmark. A license agreement to use FRGC database was obtained. (DOCX 139 kb
Additional file 1: of Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Table S1. SCA29 Questionnaire. Table S2. Assessment of pathogenicity for ITPR1 variants identified in this study. (DOCX 1606 kb