Works by Goh, Denise Li‐Meng

Results: 9

Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3482, doi. 10.1002/ajmg.a.62974
By:
- Nazeha, Nuraini;
- Koh, Ai Ling;
- Kam, Sylvia;
- Lim, Jiin Ying;
- Goh, Denise Li Meng;
- Jamuar, Saumya Shekhar;
- Graves, Nicholas
Publication type:
Article
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
Published in:
2024
By:
- Chin, Hui‐Lin;
- Benton, Miles C.;
- Yang, Lin;
- Poon, Kok Siong;
- Tan, Karen M. L.;
- Jamuar, Saumya S.;
- Foo, Roger;
- Law, Hai Yang;
- Goh, Denise Li‐Meng;
- Chong, Samuel S.;
- de Sessions, Paola Florez
Publication type:
Case Study
Cholestatic Jaundice in Sulphite Oxidase Deficiency – An Unusual Association.
Published in:
Indian Journal of Pediatrics, 2021, v. 88, n. 1, p. 64, doi. 10.1007/s12098-020-03428-3
By:
- Ong, Alan Sze Kiat;
- Aw, Marion Margaret;
- Goh, Denise Li-Meng;
- Karthik, Sivaramakrishnan Venkatesh
Publication type:
Article
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.
Published in:
2018
By:
- Wang, Furene Sijia;
- Goh, Denise Li Meng;
- Ong, Hian Tat
Publication type:
journal article
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1131, doi. 10.1002/jimd.12238
By:
- Zhao, Piming;
- Liu, Isaac D.;
- Hodgin, Jeffrey B.;
- Benke, Peter I.;
- Selva, Jeremy;
- Torta, Federico;
- Wenk, Markus R.;
- Endrizzi, James A.;
- West, Olivia;
- Ou, Weixing;
- Tang, Emily;
- Goh, Denise Li‐Meng;
- Tay, Stacey Kiat‐Hong;
- Yap, Hui‐Kim;
- Loh, Alwin;
- Weaver, Nicole;
- Sullivan, Bonnie;
- Larson, Austin;
- Cooper, Megan A.;
- Alhasan, Khalid
Publication type:
Article
Parvalbumin – the major tropical fish allergen.
Published in:
Pediatric Allergy & Immunology, 2008, v. 19, n. 5, p. 399, doi. 10.1111/j.1399-3038.2007.00674.x
By:
- Lim, Dawn Li-Chern;
- Neo, Keng Hwee;
- Yi, Fong Cheng;
- Chua, Kaw Yan;
- Goh, Denise Li-Meng;
- Shek, Lynette Pei-Chi;
- Giam, Yoke Chin;
- Van Bever, Hugo P. S.;
- Lee, Bee Wah
Publication type:
Article
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore.
Published in:
Hereditary Cancer in Clinical Practice, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s13053-022-00230-4
By:
- Loh, Jerold;
- Ong, Pei Yi;
- Goh, Denise Li Meng;
- Puhaindran, Mark E.;
- Vellayappan, Balamurugan A.;
- Ow, Samuel Guan Wei;
- Chan, Gloria;
- Lee, Soo-Chin
Publication type:
Article
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
Published in:
Journal of Molecular Medicine, 2019, v. 97, n. 11, p. 1557, doi. 10.1007/s00109-019-01834-5
By:
- Chin, Hui-Lin;
- Goh, Denise Li-Meng;
- Wang, Furene Sijia;
- Tay, Stacey Kiat Hong;
- Heng, Chew Kiat;
- Donnini, Claudia;
- Baruffini, Enrico;
- Pines, Ophry
Publication type:
Article
Secondary Household Transmission of SARS, Singapore.
Published in:
Emerging Infectious Diseases, 2004, v. 10, n. 2, p. 232, doi. 10.3201/eid1002.030676
By:
- Goh, Denise Li-Meng;
- Bee Wah Lee;
- Kee Seng Chia;
- Bee Hoon Heng, Denise Li-Meng;
- Chen, Mark;
- Ma, Stefan;
- Chorh Chuan Tan, Stefan
Publication type:
Article