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V Jamieson

Showing results (171-180 of 192) with videos related to

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American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|May 13, 2005
Alemtuzumab (CAMPATH 1H) induction therapy in cadaveric kidney transplantation--efficacy and safety at five yearsChristopher J E Watson, J Andrew Bradley, Peter J Friend, et al.
Transplantation|August 13, 2019
Cold Pulsatile Machine Perfusion Versus Static Cold Storage for Kidneys Donated After Circulatory Death: A Multicenter Randomized Controlled TrialDominic M Summers, Niaz Ahmad, Lucy V Randle, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
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.
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.
Pageof 20

Showing results (171-180 of 192) with videos related to

Sort By:
Pageof 20
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|May 13, 2005
Alemtuzumab (CAMPATH 1H) induction therapy in cadaveric kidney transplantation--efficacy and safety at five yearsChristopher J E Watson, J Andrew Bradley, Peter J Friend, et al.
Transplantation|August 13, 2019
Cold Pulsatile Machine Perfusion Versus Static Cold Storage for Kidneys Donated After Circulatory Death: A Multicenter Randomized Controlled TrialDominic M Summers, Niaz Ahmad, Lucy V Randle, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
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.
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.
Pageof 20