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1991, Issues in the biology of language and cognition., ISBN 9780262041157, xiv, 217
Book
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e95768 - e95768
Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO),... 
MOLECULAR-MECHANISM | RHODOPSIN GENE | HETEROZYGOUS MISSENSE MUTATION | CGMP-PHOSPHODIESTERASE | ALPHA-SUBUNIT | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | GAF-A DOMAIN | CATALYTIC SUBUNITS | CYCLIC-GMP PHOSPHODIESTERASE | OUTER SEGMENTS | Night Blindness - metabolism | Humans | Night Blindness - etiology | Heterotrimeric GTP-Binding Proteins - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Light Signal Transduction - genetics | Genetic Diseases, X-Linked - etiology | Heterotrimeric GTP-Binding Proteins - genetics | Myopia - metabolism | Genetic Diseases, X-Linked - genetics | Light Signal Transduction - physiology | Night Blindness - genetics | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Animals, Genetically Modified | Xenopus laevis | Catalytic Domain - genetics | Genetic Diseases, X-Linked - metabolism | Myopia - etiology | Catalytic Domain - physiology | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Eye Diseases, Hereditary - etiology | Mutation | Eye Diseases, Hereditary - metabolism | Neurosciences | Night | Genomics | Genes | Transgenic | Transducin | Retina | Activation | Rods | Nyctalopia | Substitutes | Rodents | Cyclic GMP | Physiology | Catalysis | Deoxyribonucleic acid--DNA | Phosphodiesterase | Tyrosine | Enzymes | Rhodopsin | Congenital diseases | Desensitization | Biophysics | Phototransduction | Plasmids | Pedigree | Blindness | Photoreceptors | Genetic testing | Stationary night blindness | Catalytic subunits | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 2014, Volume 5, Issue 3, pp. 215 - 222
Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or... 
Qualitative research | Attitudes | Genetic testing | Patients' perspectives | Inherited retinal disease | Medical research | Beliefs, opinions and attitudes | Medicine, Experimental | Health attitudes | Genetic aspects | Research | Diagnosis | Public opinion | Patients | Retinal diseases | Genetic screening
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 7/2014, Volume 5, Issue 3, pp. 215 - 222
Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or... 
Human Genetics | Gene Function | Qualitative research | Public Health | Biomedicine | Gene Therapy | Patients’ perspectives | Inherited retinal disease | Attitudes | Genetic testing | Epidemiology | Original
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e41902 - e41902
Journal Article
Pharmaceutical Research, ISSN 0724-8741, 11/2018, Volume 35, Issue 11, pp. 1 - 4
Ophthalmic drug discovery and development has enjoyed a recent renaissance, with a major shift away from reformulating old systemic drugs for ocular use to de... 
Biochemistry, general | Biomedical Engineering | inherited retinal degenerative disease | Biomedicine | Pharmacy | Medical Law | Pharmacology/Toxicology | Drugs | Fighting | Product innovation | Therapeutic applications | Retina | Drug development | Gene sequencing | Eye | Industrial development | Blindness | Retinal degeneration | Eye diseases | Drug discovery | Molecular biology | Refueling
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2008, Volume 3, Issue 7, pp. e2593 - e2593
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2014, Volume 9, Issue 11, pp. e112142 - e112142
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104000 - e104000
Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or... 
DOMAIN | COMPLEX | ANTERIOR SEGMENT DYSGENESIS | PROTEIN | CONGENITAL CATARACT | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | N-TERMINUS | LOCUS | STATIONARY NIGHT BLINDNESS | Alternative Splicing | Exons | Humans | Cataract - pathology | Molecular Sequence Data | Male | Green Fluorescent Proteins - genetics | Mutation, Missense | Lens, Crystalline - pathology | Exome | Codon | Base Sequence | HEK293 Cells | Adult | Female | Genes, Reporter | Genetic Linkage | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Gene Expression | Genome-Wide Association Study | Lens, Crystalline - metabolism | Glaucoma - complications | Glaucoma - congenital | Cataract - complications | Cataract - congenital | Pedigree | TRPM Cation Channels - genetics | Cataract - genetics | Chromosomes, Human, Pair 9 - chemistry | Glaucoma - pathology | Glaucoma - genetics | Amino Acid Substitution | Glaucoma | Cataract | Genetic aspects | Genomics | Cataracts | Alternative splicing | Transcription | Genes | Genomes | Substitutes | Proteins | Transient receptor potential proteins | Missense mutation | Coding | Chromosomes | Age | Target detection | Recombinant | Linkage analysis | Isoleucine | Visually handicapped people | Congenital diseases | Splicing | Abnormalities | Methionine | Loci | Medicine | Visual impairment | Chromosome 9 | Blindness | Cations | Mutation | Codons | Eye lens | Index Medicus
Journal Article