- A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
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Kim SK, Jung SY, Bae SP, Kim J, Lee J, Lee DH
- KMID: 2470103
- J Genet Med.
- 2019 Dec;16(2):81-84.
- doi: 10.5734/JGM.2019.16.2.81
Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially... -
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- Markers for Screening Lynch Syndrome Are Reliable and Useful for Identifying the Specimen Mislabeling
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Byeon SJ, Choi J, Nam KH, Jang BG, Lee HE, Kim MA, Kim WH
- KMID: 2011980
- Korean J Pathol.
- 2012 Apr;46(2):131-136.
BACKGROUND: During specimen processing in surgical pathology laboratories, specimen-related adverse events (SRAEs), such as mislabeling and specimen mixed-up might occur. In these situations, molecular techniques using short tandem repeat (STR)... -
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