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Lancet (London, England)
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July 8, 2023
Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene
Pradip Dashraath, Karen M X Lim, Hui-Lin Chin, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2021
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, et al.
Annals of the Academy of Medicine, Singapore
|
March 3, 2026
Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, et al.
Vaccine
|
January 8, 2021
Childhood vaccinations: Hidden impact of COVID-19 on children in Singapore
Youjia Zhong, Hannah Eleanor Clapham, Ramkumar Aishworiya, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2022
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, et al.
Molecular Genetics & Genomic Medicine
|
September 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, et al.
Molecular Therapy. Nucleic Acids
|
September 23, 2024
Targeting heterozygous dominant negative variant of <i>KCNA2</i> using Gapmer ASO for the treatment of drug-resistant epilepsy
Hua Huang, Dong Rui Ma, Derrick Wei Shih Chan, et al.
Kidney International Reports
|
July 1, 2026
Scoping Review of Global Kidney Genetics Clinic Models and Outcomes
Ru Sin Lim, Trudie Harris, Julia Jefferis, et al.
Scientific Reports
|
March 5, 2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, et al.
BMC Nephrology
|
March 26, 2026
GENEKIDS-PRO: genomic enhancement and patient engagement in nephrology through multidisciplinary kidney genetics clinic implementation and integration in Singapore - a study protocol using a process evaluation framework
Ru Sin Lim, Edwin Chan Shih-Yen, Sanchalika Acharyya, et al.
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Search research articles
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Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
Lancet (London, England)
|
July 8, 2023
Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene
Pradip Dashraath, Karen M X Lim, Hui-Lin Chin, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2021
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, et al.
Annals of the Academy of Medicine, Singapore
|
March 3, 2026
Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, et al.
Vaccine
|
January 8, 2021
Childhood vaccinations: Hidden impact of COVID-19 on children in Singapore
Youjia Zhong, Hannah Eleanor Clapham, Ramkumar Aishworiya, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2022
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, et al.
Molecular Genetics & Genomic Medicine
|
September 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, et al.
Molecular Therapy. Nucleic Acids
|
September 23, 2024
Targeting heterozygous dominant negative variant of <i>KCNA2</i> using Gapmer ASO for the treatment of drug-resistant epilepsy
Hua Huang, Dong Rui Ma, Derrick Wei Shih Chan, et al.
Kidney International Reports
|
July 1, 2026
Scoping Review of Global Kidney Genetics Clinic Models and Outcomes
Ru Sin Lim, Trudie Harris, Julia Jefferis, et al.
Scientific Reports
|
March 5, 2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, et al.
BMC Nephrology
|
March 26, 2026
GENEKIDS-PRO: genomic enhancement and patient engagement in nephrology through multidisciplinary kidney genetics clinic implementation and integration in Singapore - a study protocol using a process evaluation framework
Ru Sin Lim, Edwin Chan Shih-Yen, Sanchalika Acharyya, et al.
Page
of 4