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Alan Ma

Showing results (11-20 of 40) with videos related to

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Journal of Paediatrics and Child Health|February 3, 2025
Navigating an Uninformative Genomic Test Result: A Practical GuideLaura St Clair, Claire Wong, Christopher Elliot, et al.
Journal of Paediatrics and Child Health|June 27, 2026
A Practical Guide to Chromosome Microarray Interpretation for PaediatriciansZachary E McPherson, Margit Shah, Sarah Josephi-Taylor, et al.
Australian Journal of General Practice|February 8, 2026
Genomics and precision medicine: The expanding role of general practitionersStephen Barnett, David Wilkinson, Mehrnoush Bonakdar Tehrani, et al.
Eye (London, England)|May 21, 2026
The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGRDeborah Schofield, Joshua Kraindler, Rupendra N Shrestha, et al.
Journal of Personalized Medicine|March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy SuitabilityFidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
The Medical Journal of Australia|March 17, 2025
Dismantling barriers to research and clinical care for individuals with a vision impairmentEden G Robertson, Kate Hetherington, Meredith Prain, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
BMJ Open|September 30, 2025
Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnershipEden G Robertson, Kate Hetherington, Meredith Prain, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Journal of Paediatrics and Child Health|February 3, 2025
Navigating an Uninformative Genomic Test Result: A Practical GuideLaura St Clair, Claire Wong, Christopher Elliot, et al.
Journal of Paediatrics and Child Health|June 27, 2026
A Practical Guide to Chromosome Microarray Interpretation for PaediatriciansZachary E McPherson, Margit Shah, Sarah Josephi-Taylor, et al.
Australian Journal of General Practice|February 8, 2026
Genomics and precision medicine: The expanding role of general practitionersStephen Barnett, David Wilkinson, Mehrnoush Bonakdar Tehrani, et al.
Eye (London, England)|May 21, 2026
The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGRDeborah Schofield, Joshua Kraindler, Rupendra N Shrestha, et al.
Journal of Personalized Medicine|March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy SuitabilityFidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
The Medical Journal of Australia|March 17, 2025
Dismantling barriers to research and clinical care for individuals with a vision impairmentEden G Robertson, Kate Hetherington, Meredith Prain, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
BMJ Open|September 30, 2025
Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnershipEden G Robertson, Kate Hetherington, Meredith Prain, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Pageof 4