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Stem Cell Research
|
December 28, 2020
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene
Khine Zaw, Elaine Y M Wong, Xiao Zhang, et al.
Ophthalmic Genetics
|
September 28, 2020
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in <i>PRPF31</i>-associated retinopathy
Danial Roshandel, Jennifer A Thompson, Jason Charng, et al.
Molecular Genetics & Genomic Medicine
|
July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect
Di Huang, Jennifer A Thompson, Jason Charng, et al.
Experimental Eye Research
|
October 9, 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts
Di Huang, Jennifer A Thompson, Shang-Chih Chen, et al.
Frontiers in Aging Neuroscience
|
April 12, 2021
Novel <i></i> Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype
Frances Theunissen, Ryan S Anderton, Frank L Mastaglia, et al.
Genes
|
October 23, 2021
Determinants of Disease Penetrance in <i>PRPF31</i>-Associated Retinopathy
Samuel McLenachan, Dan Zhang, Janya Grainok, et al.
Health Technology Assessment (Winchester, England)
|
September 27, 2025
A group intervention for parents and carers to recognise and understand restricted and repetitive behaviour in autistic children: a multisite RCT
Victoria Grahame, Ashleigh Kernohan, Ehsan Kharati, et al.
Autism : the International Journal of Research and Practice
|
June 9, 2025
Understanding Repetitive Behaviours: A clinical and cost-effectiveness, multi-site randomised controlled trial of a group for parents and carers of young autistic children
Victoria Grahame, Ashleigh Kernohan, Ehsan Kharati, et al.
Trials
|
April 2, 2021
A clinical and cost-effectiveness trial of a parent group intervention to manage challenging restricted and repetitive behaviours in young children with autism spectrum disorder: study protocol for a randomised controlled trial
Victoria Grahame, Linda Dixon, Sue Fletcher-Watson, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
October 10, 2025
Maximizing the Quality and Reporting Standards of Autism Intervention Science
Shannon LaPoint, Claire Brito Klein, Micheal Sandbank, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 173) with videos related to
Sort By:
Page
of 18
Stem Cell Research
|
December 28, 2020
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene
Khine Zaw, Elaine Y M Wong, Xiao Zhang, et al.
Ophthalmic Genetics
|
September 28, 2020
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in <i>PRPF31</i>-associated retinopathy
Danial Roshandel, Jennifer A Thompson, Jason Charng, et al.
Molecular Genetics & Genomic Medicine
|
July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect
Di Huang, Jennifer A Thompson, Jason Charng, et al.
Experimental Eye Research
|
October 9, 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts
Di Huang, Jennifer A Thompson, Shang-Chih Chen, et al.
Frontiers in Aging Neuroscience
|
April 12, 2021
Novel <i></i> Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype
Frances Theunissen, Ryan S Anderton, Frank L Mastaglia, et al.
Genes
|
October 23, 2021
Determinants of Disease Penetrance in <i>PRPF31</i>-Associated Retinopathy
Samuel McLenachan, Dan Zhang, Janya Grainok, et al.
Health Technology Assessment (Winchester, England)
|
September 27, 2025
A group intervention for parents and carers to recognise and understand restricted and repetitive behaviour in autistic children: a multisite RCT
Victoria Grahame, Ashleigh Kernohan, Ehsan Kharati, et al.
Autism : the International Journal of Research and Practice
|
June 9, 2025
Understanding Repetitive Behaviours: A clinical and cost-effectiveness, multi-site randomised controlled trial of a group for parents and carers of young autistic children
Victoria Grahame, Ashleigh Kernohan, Ehsan Kharati, et al.
Trials
|
April 2, 2021
A clinical and cost-effectiveness trial of a parent group intervention to manage challenging restricted and repetitive behaviours in young children with autism spectrum disorder: study protocol for a randomised controlled trial
Victoria Grahame, Linda Dixon, Sue Fletcher-Watson, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
October 10, 2025
Maximizing the Quality and Reporting Standards of Autism Intervention Science
Shannon LaPoint, Claire Brito Klein, Micheal Sandbank, et al.
Page
of 18