Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Wui-Kwan Wong

Showing results (1-10 of 8) with videos related to

Pageof 1
Sort By:
Neuromuscular Disorders : NMD|November 8, 2024
Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophyWui-Kwan Wong, Denise Warner, Richard Webster
Frontiers in Network Physiology|July 26, 2024
Case Report: Focal, generalized, or both: does generalized network involvement preclude successful epilepsy surgery?Cathy K Cui, Wui-Kwan Wong, Chong H Wong, et al.
JIMD Reports|November 7, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variantWui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, et al.
Journal of Paediatrics and Child Health|March 5, 2022
Rapid onset functional tic-like behaviours in children and adolescents during COVID-19: Clinical features, assessment and biopsychosocial treatment approachVelda X Han, Kasia Kozlowska, Kavitha Kothur, et al.
Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|November 8, 2024
Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophyWui-Kwan Wong, Denise Warner, Richard Webster
Frontiers in Network Physiology|July 26, 2024
Case Report: Focal, generalized, or both: does generalized network involvement preclude successful epilepsy surgery?Cathy K Cui, Wui-Kwan Wong, Chong H Wong, et al.
JIMD Reports|November 7, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variantWui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, et al.
Journal of Paediatrics and Child Health|March 5, 2022
Rapid onset functional tic-like behaviours in children and adolescents during COVID-19: Clinical features, assessment and biopsychosocial treatment approachVelda X Han, Kasia Kozlowska, Kavitha Kothur, et al.
Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 1