Expressivity genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy12

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Toes Retinal Pigment Epithelium Ribs Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Muscle, Skeletal Rod Cell Outer Segment

Organisms3

Poa Mice, Inbred mdx Rats, Mutant Strains

Diseases43

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

Chemicals and Drugs24

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Codon, Nonsense Sarcoglycans Proteins Lipofuscin Rhodopsin Dystroglycans Utrophin Nerve Tissue Proteins Intermediate Filament Proteins Rod Opsins Carrier Proteins Codon Homeodomain Proteins Membrane Proteins ATP-Binding Cassette Transporters Guanylate Cyclase Transcription Factors Thymopoietins Collagen Type VI Receptor Protein-Tyrosine Kinases

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

Pedigree Electroretinography DNA Mutational Analysis Chromosome Mapping Visual Acuity Fluorescein Angiography Heteroduplex Analysis Tomography, Optical Coherence Crosses, Genetic Visual Field Tests Ophthalmoscopy Genetic Testing Disease Models, Animal Polymerase Chain Reaction

Psychiatry and Psychology7

Visual Acuity Empathy Visual Fields Family Intellectual Disability Emotions Vision, Ocular

Phenomena and Processes34

Penetrance Phenotype Genes, Recessive Genes, Dominant Mutation Consanguinity Genetic Linkage Heterozygote Mutation, Missense Homozygote Inheritance Patterns Dark Adaptation Visual Acuity Base Sequence Genotype Haplotypes Codon, Nonsense Exons Visual Fields Alleles Exome Polymorphism, Single-Stranded Conformational Lod Score Frameshift Mutation Codon Genetic Variation Amino Acid Sequence Vision, Ocular Point Mutation Genetic Predisposition to Disease Light Fluorescence Trinucleotide Repeat Expansion Gene Expression Regulation, Developmental

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care2

Age of Onset Genetic Testing

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Anthropology, Education, Sociology and Social Phenomena Information Science Health Care

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Pedigree Retinitis Pigmentosa Leber Congenital Amaurosis Penetrance Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Electroretinography cis-trans-Isomerases Eye Diseases, Hereditary Phenotype Genes, Recessive Genes, Dominant Muscular Dystrophy, Animal Mutation Poa Eye Proteins Fundus Oculi Abnormalities, Multiple DNA Mutational Analysis Syndrome Fuchs' Endothelial Dystrophy Consanguinity Retinal Diseases Laurence-Moon Syndrome Genetic Linkage Photoreceptor Cells, Vertebrate Heterozygote Retina Peripherins Mutation, Missense Blindness Muscular Dystrophy, Facioscapulohumeral Syndactyly Dystrophin Homozygote Chromosome Mapping Pigment Epithelium of Eye Bardet-Biedl Syndrome Microphthalmos Holoprosencephaly Photoreceptor Cells Night Blindness Toes Inheritance Patterns Alstrom Syndrome Dark Adaptation Visual Acuity Foot Deformities, Congenital Retinal Pigment Epithelium Alagille Syndrome Eye Abnormalities Molecular Sequence Data Muscular Dystrophy, Emery-Dreifuss Ribs Base Sequence Fluorescein Angiography Mice, Inbred mdx Retinal Rod Photoreceptor Cells Empathy Usher Syndromes Optic Atrophy, Hereditary, Leber Genotype Haplotypes Macular Degeneration Retinal Cone Photoreceptor Cells Choroid Diseases Neuroaxonal Dystrophies Optic Atrophies, Hereditary Codon, Nonsense Exons Optic Disk Drusen Sarcoglycans Proteins Kidney Diseases, Cystic Lipofuscin Rats, Mutant Strains Visual Fields Alleles Heteroduplex Analysis Tomography, Optical Coherence Crosses, Genetic Rhodopsin Exome Muscular Dystrophy, Oculopharyngeal Dystroglycans Visual Field Tests Age of Onset Reflex Sympathetic Dystrophy Family Vision Disorders Polymorphism, Single-Stranded Conformational Utrophin Ophthalmoscopy Vitelliform Macular Dystrophy Lod Score Frameshift Mutation

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