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Isabelle Russell-Eggitt

Showing results (21-30 of 38) with videos related to

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Journal of Inherited Metabolic Disease|November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
The British Journal of Ophthalmology|January 22, 2017
Study of Optimal Perimetric Testing In Children (OPTIC): development and feasibility of the kinetic perimetry reliability measure (KPRM)Dipesh E Patel, Ananth C Viswanathan, David Garway-Heath, et al.
Developmental Medicine and Child Neurology|October 12, 2004
Joubert syndrome: long-term follow-upPeter R Hodgkins, Christopher M Harris, Fatima S Shawkat, et al.
Investigative Ophthalmology & Visual Science|August 18, 2009
A mutant connexin50 with enhanced hemichannel function leads to cell deathPeter J Minogue, Jun-Jie Tong, Anita Arora, et al.
The British Journal of Ophthalmology|October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1Robert H Henderson, Donna S Mackay, Zheng Li, et al.
JAMA Ophthalmology|December 30, 2017
Comparison of Quality and Output of Different Optimal Perimetric Testing Approaches in Children With GlaucomaDipesh E Patel, Phillippa M Cumberland, Bronwen C Walters, et al.
Nature Genetics|April 10, 2002
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin, Jan D Marshall, Akihiro Ikeda, et al.
The Journal of Investigative Dermatology|January 8, 2004
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman, Christian P Hamel, Reuven Bergman, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert H Henderson, Naushin Waseem, Rowan Searle, et al.
Investigative Ophthalmology & Visual Science|October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotypeSarah Hull, Gavin Arno, Vincent Plagnol, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
The British Journal of Ophthalmology|January 22, 2017
Study of Optimal Perimetric Testing In Children (OPTIC): development and feasibility of the kinetic perimetry reliability measure (KPRM)Dipesh E Patel, Ananth C Viswanathan, David Garway-Heath, et al.
Developmental Medicine and Child Neurology|October 12, 2004
Joubert syndrome: long-term follow-upPeter R Hodgkins, Christopher M Harris, Fatima S Shawkat, et al.
Investigative Ophthalmology & Visual Science|August 18, 2009
A mutant connexin50 with enhanced hemichannel function leads to cell deathPeter J Minogue, Jun-Jie Tong, Anita Arora, et al.
The British Journal of Ophthalmology|October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1Robert H Henderson, Donna S Mackay, Zheng Li, et al.
JAMA Ophthalmology|December 30, 2017
Comparison of Quality and Output of Different Optimal Perimetric Testing Approaches in Children With GlaucomaDipesh E Patel, Phillippa M Cumberland, Bronwen C Walters, et al.
Nature Genetics|April 10, 2002
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin, Jan D Marshall, Akihiro Ikeda, et al.
The Journal of Investigative Dermatology|January 8, 2004
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman, Christian P Hamel, Reuven Bergman, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert H Henderson, Naushin Waseem, Rowan Searle, et al.
Investigative Ophthalmology & Visual Science|October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotypeSarah Hull, Gavin Arno, Vincent Plagnol, et al.
Pageof 4