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Translational Pediatrics
|
February 3, 2016
Phenylketonuria: translating research into novel therapies
Gladys Ho, John Christodoulou
Journal of Inherited Metabolic Disease
|
March 28, 2013
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria
Gladys Ho, Juergen Reichardt, John Christodoulou
Human Mutation
|
May 26, 2017
RettBASE: Rett syndrome database update
Rahul Krishnaraj, Gladys Ho, John Christodoulou
Translational Pediatrics
|
November 8, 2022
A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism
Ashley Hertzog, Arthavan Selvanathan, Beena Devanapalli, et al.
Children (Basel, Switzerland)
|
November 27, 2024
Newborn Genomic Sequencing Needs Confirmation but Not Repeating
Bruce Bennetts, Gladys Ho, Sarah Shin, et al.
JIMD Reports
|
December 26, 2013
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness
Gladys Ho, Ian Alexander, Kaustuv Bhattacharya, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2016
Functional abilities in children and adults with the CDKL5 disorder
Stephanie Fehr, Jenny Downs, Gladys Ho, et al.
Journal of Neurodevelopmental Disorders
|
February 7, 2015
There is variability in the attainment of developmental milestones in the CDKL5 disorder
Stephanie Fehr, Helen Leonard, Gladys Ho, et al.
Brain & Development
|
November 14, 2021
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
Denise L Chan, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Parkinsonism & Related Disorders
|
May 26, 2022
SPG11 presenting with dystonic tremor in childhood
Emily A Innes, Robert Goetti, Neil Mahant, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 43) with videos related to
Sort By:
Page
of 5
Translational Pediatrics
|
February 3, 2016
Phenylketonuria: translating research into novel therapies
Gladys Ho, John Christodoulou
Journal of Inherited Metabolic Disease
|
March 28, 2013
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria
Gladys Ho, Juergen Reichardt, John Christodoulou
Human Mutation
|
May 26, 2017
RettBASE: Rett syndrome database update
Rahul Krishnaraj, Gladys Ho, John Christodoulou
Translational Pediatrics
|
November 8, 2022
A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism
Ashley Hertzog, Arthavan Selvanathan, Beena Devanapalli, et al.
Children (Basel, Switzerland)
|
November 27, 2024
Newborn Genomic Sequencing Needs Confirmation but Not Repeating
Bruce Bennetts, Gladys Ho, Sarah Shin, et al.
JIMD Reports
|
December 26, 2013
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness
Gladys Ho, Ian Alexander, Kaustuv Bhattacharya, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2016
Functional abilities in children and adults with the CDKL5 disorder
Stephanie Fehr, Jenny Downs, Gladys Ho, et al.
Journal of Neurodevelopmental Disorders
|
February 7, 2015
There is variability in the attainment of developmental milestones in the CDKL5 disorder
Stephanie Fehr, Helen Leonard, Gladys Ho, et al.
Brain & Development
|
November 14, 2021
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
Denise L Chan, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Parkinsonism & Related Disorders
|
May 26, 2022
SPG11 presenting with dystonic tremor in childhood
Emily A Innes, Robert Goetti, Neil Mahant, et al.
Page
of 5