Kok-Siong Poon

13PUBLICATIONS
15CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Paediatrics not elsewhere classifiedGene mappingNeurogeneticsDevelopmental genetics (incl. sex determination)
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Publications (13)

|Jan 01, 2024
A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl.

Kok-Siong Poon, Karen Mei-Ling Tan, Margaret Zacharin

|Sep 23, 2023
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Hui-Lin Chin, Miles C Benton, Lin Yang

|Apr 26, 2022
A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population.

Kok-Siong Poon, Izz Irfan B Imran, Silvester Kheng-Han Chew

|Sep 02, 2021
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke

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