Ai Ling Koh

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 4

Top Topics

Ejection Fraction

Peritoneal Dialysis

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

KK Women's and Children's Hospital

This page only lists publications with an associated author ORCID identifier.

Affiliation History

KK Women's and Children's Hospital Sep 09 2019

Singapore

Associate Consultant :: Department of Paediatrics

Publications

Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, Vic Khi June Tan, Stephanie Koo, Gen Nishimura, Shahida Moosa, Ai Ling Koh, Ene Choo Tan, Nikki Fong, Saumya Shekhar Jamuar
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease. American journal of medical genetics. Part A (2023)
Nuraini Nazeha, Ai Ling Koh, Sylvia Kam, Jiin Ying Lim, Denise Li Meng Goh, Saumya Shekhar Jamuar, Nicholas Graves
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort. American journal of medical genetics. Part A 188 (12) (2022)
Ai Ling Koh, Carine Bonnard, Nur Ain Binte Ali, Bruno Reversade, Saumya Shekhar Jamuar
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome? American journal of medical genetics. Part A (2021)
Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, Woei Kang Liew, Koh Cheng Thoon, Terrence Thomas, Nur Ain Binte Ali, Alvin Yu Jin Ng, Sumanty Tohari, Kong Boo Phua, Byrappa Venkatesh, Bruno Reversade, Saumya Shekhar Jamuar
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome? American journal of medical genetics. Part A 182 (9) (2020)