共 50 条
- [3] A homozygousmutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2015, 5 : 15 - 18
- [4] Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (03): : 269 - 279
- [5] Diagnostic Clinical Genome and Exome Sequencing [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (12): : 1170 - 1170
- [6] Diagnostic Clinical Genome and Exome Sequencing [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (25): : 2418 - 2425
- [7] Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (07):