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Robyn V Jamieson

Showing results (61-70 of 78) with videos related to

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Ophthalmic Genetics|February 20, 2014
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisYiran Guo, Ivan Prokudin, Cong Yu, et al.
Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, 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.
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.
European Journal of Human Genetics : EJHG|January 20, 2012
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromesSandy Léger, Xavier Balguerie, Alice Goldenberg, et al.
Scientific Reports|December 11, 2023
AAV capsid bioengineering in primary human retina modelsAdrian Westhaus, Steven S Eamegdool, Milan Fernando, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Pageof 8

Showing results (61-70 of 78) with videos related to

Sort By:
Pageof 8
Ophthalmic Genetics|February 20, 2014
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisYiran Guo, Ivan Prokudin, Cong Yu, et al.
Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, 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.
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.
European Journal of Human Genetics : EJHG|January 20, 2012
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromesSandy Léger, Xavier Balguerie, Alice Goldenberg, et al.
Scientific Reports|December 11, 2023
AAV capsid bioengineering in primary human retina modelsAdrian Westhaus, Steven S Eamegdool, Milan Fernando, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Pageof 8