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Nature
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July 16, 1992
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
O 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 site
P 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 chromosome
H 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 gene
M 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 tetrahydropterin
R 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 segments
S 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 PYGM
R 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 studies
J 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) gene
S 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 morphogenesis
G Clarke, A F Goldberg, D Vidgen, et al.
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Search research articles
Search
Showing results (61-70 of 74) with videos related to
Sort By:
Page
of 8
Nature
|
July 16, 1992
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
O 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 site
P 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 chromosome
H 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 gene
M 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 tetrahydropterin
R 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 segments
S 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 PYGM
R 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 studies
J 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) gene
S 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 morphogenesis
G Clarke, A F Goldberg, D Vidgen, et al.
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