Works by Poon, Kok Siong
Results: 15
A novel JAK2 R564* variant in a patient with thrombocytosis.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Role of Asymptomatic Children in Community Severe Acute Respiratory Syndrome Coronavirus 2 Transmission.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Dynamic altruistic cooperation within breast tumors.
- Published in:
- Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01896-7
- By:
- Publication type:
- Article
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population.
- Published in:
- BMC Research Notes, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13104-021-05821-3
- By:
- Publication type:
- Article
Pitfalls of PCR-RFLP in Detecting SARS-CoV-2 D614G Mutation.
- Published in:
- Global Medical Genetics, 2022, v. 9, n. 2, p. 189, doi. 10.1055/s-0041-1735556
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- Publication type:
- Article
Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00167-5
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- Publication type:
- Article
Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0096-0
- By:
- Publication type:
- Article
A Novel Indel in the Alpha Globin 2 (HBA2) Gene Resulting in False Positive -α<sup>3.7</sup> on Multiplex gap-PCR Assay.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 9, p. 1284, doi. 10.1093/clinchem/hvab113
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- Publication type:
- Article
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2015, v. 3, n. 3, p. 1, doi. 10.1177/2324709615598167
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- Publication type:
- Article
Detecting SARS‐CoV‐2 RNA in fecal specimens: The practical challenges.
- Published in:
- Journal of Medical Virology, 2021, v. 93, n. 9, p. 5241, doi. 10.1002/jmv.27071
- By:
- Publication type:
- Article
Performance evaluation of Cepheid Xpert Norovirus kit with a user‐modified protocol.
- Published in:
- Journal of Medical Virology, 2018, v. 90, n. 3, p. 485, doi. 10.1002/jmv.24981
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- Publication type:
- Article
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88586-w
- By:
- Publication type:
- Article
Caveats of Reporting Cycle Threshold Values from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Qualitative Polymerase Chain Reaction Assays: A Molecular Diagnostic Laboratory Perspective.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 9, p. e2851, doi. 10.1093/cid/ciaa1399
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- Publication type:
- Article