Ai Ling Koh

4PUBLICATIONS
4CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedDevelopmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Oct 06, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia

|Sep 26, 2022
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.

Nuraini Nazeha, Ai Ling Koh, Sylvia Kam

|Sep 16, 2021
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?

Ai Ling Koh, Carine Bonnard, Nur Ain Binte Ali

|Jul 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Ai Ling Koh, Carine Bonnard, Jiin Ying Lim

Pageof 1

Frequent Collaborators

3 joint publications

Saumya Shekhar Jamuar

1 joint publications

Jia Ying Celeste Yap

1 joint publications

Shahida Moosa

1 joint publications

Ene Choo Tan