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R R McInnes

Showing results (61-70 of 74) with videos related to

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Nature|July 16, 1992
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphataseO Attree, I M Olivos, I Okabe, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active siteP L Howell, M A Turner, J Christodoulou, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|August 2, 2000
Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosomeH J Blair, V Reed, E Gormally, et al.
American Journal of Human Genetics|October 30, 1998
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor geneM M Sohocki, L S Sullivan, H A Mintz-Hittner, et al.
The Journal of Clinical Investigation|February 1, 1984
Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterinR R McInnes, S Kaufman, J J Warsh, et al.
The Journal of Biological Chemistry|December 10, 1999
PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segmentsS Xu, R Ladak, D A Swanson, et al.
American Journal of Human Genetics|November 1, 1992
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGMR A Bascom, J García-Heras, C L Hsieh, et al.
American Journal of Medical Genetics|April 15, 1994
Barth syndrome: clinical observations and genetic linkage studiesJ Christodoulou, R R McInnes, V Jay, et al.
Investigative Ophthalmology & Visual Science|November 6, 1998
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) geneS G Jacobson, A V Cideciyan, Y Huang, et al.
Nature Genetics|May 10, 2000
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesisG Clarke, A F Goldberg, D Vidgen, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
Nature|July 16, 1992
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphataseO Attree, I M Olivos, I Okabe, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active siteP L Howell, M A Turner, J Christodoulou, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|August 2, 2000
Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosomeH J Blair, V Reed, E Gormally, et al.
American Journal of Human Genetics|October 30, 1998
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor geneM M Sohocki, L S Sullivan, H A Mintz-Hittner, et al.
The Journal of Clinical Investigation|February 1, 1984
Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterinR R McInnes, S Kaufman, J J Warsh, et al.
The Journal of Biological Chemistry|December 10, 1999
PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segmentsS Xu, R Ladak, D A Swanson, et al.
American Journal of Human Genetics|November 1, 1992
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGMR A Bascom, J García-Heras, C L Hsieh, et al.
American Journal of Medical Genetics|April 15, 1994
Barth syndrome: clinical observations and genetic linkage studiesJ Christodoulou, R R McInnes, V Jay, et al.
Investigative Ophthalmology & Visual Science|November 6, 1998
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) geneS G Jacobson, A V Cideciyan, Y Huang, et al.
Nature Genetics|May 10, 2000
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesisG Clarke, A F Goldberg, D Vidgen, et al.
Pageof 8