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Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 747 - 759
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 11/2015, Volume 35, Issue 11, pp. 1073 - 1078
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 907 - 925
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 11/2018, Volume 6, Issue 6, pp. 1068 - 1078
Background Clinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical... 
diagnostic exome sequencing | diagnostic odyssey | whole‐exome sequencing | clinical utility | medical management | whole-exome sequencing | DIAGNOSIS | COST-EFFECTIVENESS | RECOMMENDATIONS | GENETICS & HEREDITY | SECONDARY FINDINGS | UTILITY | CHILDREN | Surveys | Health care | Test procedures | Medical services | Diagnostic systems | Management | Patients | Gene sequencing
Journal Article