Disorders mutations genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy18

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Muscle, Skeletal Rod Cell Outer Segment Cell Line X Chromosome Cells, Cultured Brain Muscles Myoblasts Muscle Fibers, Skeletal Cornea

Organisms8

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Escherichia coli Mice, Transgenic Mice, Mutant Strains Saccharomyces cerevisiae

Diseases44

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Retinal Diseases Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Eye Diseases, Hereditary Blindness Muscular Dystrophy, Facioscapulohumeral Syndrome Bardet-Biedl Syndrome Microphthalmos Night Blindness Alstrom Syndrome Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Usher Syndromes Optic Atrophies, Hereditary Macular Degeneration Neuroaxonal Dystrophies Choroid Diseases Abnormalities, Multiple Kidney Diseases, Cystic Optic Disk Drusen Intellectual Disability Disease Models, Animal Vision Disorders Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Genetic Predisposition to Disease Substance-Related Disorders Myotonic Disorders Muscular Diseases Genetic Diseases, X-Linked Tic Disorders Corneal Dystrophy, Juvenile Epithelial of Meesmann Neuromuscular Diseases

Chemicals and Drugs35

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Codon, Nonsense Sarcoglycans Membrane Proteins Carrier Proteins Nerve Tissue Proteins Lipofuscin Rhodopsin Proteins Dystroglycans Intermediate Filament Proteins ATP-Binding Cassette Transporters Utrophin Rod Opsins DNA Primers Guanylate Cyclase DNA Receptor Protein-Tyrosine Kinases DNA-Binding Proteins Codon Transcription Factors RNA, Messenger Thymopoietins Nuclear Proteins Mutant Proteins Genetic Markers Collagen Type VI Muscle Proteins Lamin Type A Cytoskeletal Proteins Collagen Type VIII DNA, Mitochondrial

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Pedigree Electroretinography DNA Mutational Analysis Visual Acuity Polymerase Chain Reaction Chromosome Mapping Genetic Testing Amino Acid Substitution Fluorescein Angiography Sequence Analysis, DNA Heteroduplex Analysis Disease Models, Animal Tomography, Optical Coherence Visual Field Tests Ophthalmoscopy Heterozygote Detection Mutagenesis, Site-Directed Models, Molecular Cloning, Molecular Models, Genetic Sequence Alignment Genetic Complementation Test Transfection Case-Control Studies Immunohistochemistry Reverse Transcriptase Polymerase Chain Reaction Blotting, Western

Psychiatry and Psychology22

Bipolar Disorder Visual Acuity Mental Disorders Anxiety Disorders Mood Disorders Visual Fields Intellectual Disability Depressive Disorder, Major Attention Deficit Disorder with Hyperactivity Depressive Disorder Autistic Disorder Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Child Development Disorders, Pervasive Phobic Disorders Psychotic Disorders Substance-Related Disorders Vision, Ocular Conduct Disorder Tic Disorders Cognition Disorders Psychiatric Status Rating Scales

Phenomena and Processes58

Mutation, Missense Point Mutation Mutation Genes, Recessive Consanguinity Frameshift Mutation Exons Phenotype Genes, Dominant Codon, Nonsense Heterozygote Base Sequence Germ-Line Mutation Homozygote Polymorphism, Single-Stranded Conformational Visual Acuity Dark Adaptation Genotype Genetic Linkage Amino Acid Substitution Amino Acid Sequence Exome Mutation Rate Alleles Visual Fields Lod Score Haplotypes Sequence Deletion Mutagenesis Polymorphism, Single Nucleotide Protein Structure, Tertiary Genetic Predisposition to Disease Gene Deletion Founder Effect Sequence Homology, Amino Acid X Chromosome Vision, Ocular Binding Sites Trinucleotide Repeat Expansion Protein Binding Codon Light Suppression, Genetic Fluorescence Polymorphism, Genetic Genetic Markers Transfection Microsatellite Repeats Introns Gene Expression Regulation Signal Transduction Gene Frequency Genetic Variation Genes, p53 Plasmids Transcription, Genetic Time Factors Gene Expression

Disciplines and Occupations1

Immunohistochemistry

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Diagnostic and Statistical Manual of Mental Disorders

Health Care4

Genetic Testing Age of Onset Family Health Case-Control Studies

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Information Science Health Care

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Mutation, Missense Retinitis Pigmentosa Point Mutation Mutation Corneal Dystrophies, Hereditary Pedigree Electroretinography cis-trans-Isomerases Eye Proteins Muscular Dystrophy, Animal Fundus Oculi Genes, Recessive Consanguinity Frameshift Mutation DNA Mutational Analysis Retinal Diseases Fuchs' Endothelial Dystrophy Laurence-Moon Syndrome Eye Diseases, Hereditary Photoreceptor Cells, Vertebrate Retina Peripherins Exons Blindness Dystrophin Muscular Dystrophy, Facioscapulohumeral Phenotype Genes, Dominant Syndrome Codon, Nonsense Heterozygote Bardet-Biedl Syndrome Microphthalmos Bipolar Disorder Molecular Sequence Data Pigment Epithelium of Eye Base Sequence Night Blindness Photoreceptor Cells Germ-Line Mutation Homozygote Polymorphism, Single-Stranded Conformational Alstrom Syndrome Visual Acuity Dark Adaptation Retinal Pigment Epithelium Polymerase Chain Reaction Chromosome Mapping Genotype Genetic Linkage Mental Disorders Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Genetic Testing Usher Syndromes Amino Acid Substitution Age of Onset Amino Acid Sequence Mice, Inbred mdx Anxiety Disorders Mood Disorders Retinal Rod Photoreceptor Cells Fluorescein Angiography Exome Optic Atrophies, Hereditary Macular Degeneration Retinal Cone Photoreceptor Cells Neuroaxonal Dystrophies Choroid Diseases Abnormalities, Multiple Sarcoglycans Kidney Diseases, Cystic Membrane Proteins Sequence Analysis, DNA Heteroduplex Analysis Rats, Mutant Strains Optic Disk Drusen Carrier Proteins Mutation Rate Nerve Tissue Proteins Alleles Lipofuscin Visual Fields Diagnostic and Statistical Manual of Mental Disorders Intellectual Disability Rhodopsin Lod Score Proteins Disease Models, Animal Tomography, Optical Coherence Dystroglycans Vision Disorders Muscle, Skeletal Muscular Dystrophy, Oculopharyngeal

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