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1
المؤلفون: Edward H Wong, Kerry E. McTaggart, Michael J. Potter, Shelagh M. Szabo
المصدر: Ophthalmology. 111:1905-1909
مصطلحات موضوعية: Adult, Retinal degeneration, Heterozygote, Pathology, medicine.medical_specialty, Visual acuity, genetic structures, Eye disease, DNA Mutational Analysis, Visual Acuity, Dark Adaptation, Choroideremia, Ophthalmology, Electroretinography, medicine, Humans, RNA, Messenger, Fluorescein Angiography, Adaptor Proteins, Signal Transducing, Alkyl and Aryl Transferases, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Point mutation, Retinal Degeneration, medicine.disease, Fluorescein angiography, Dilated fundus examination, eye diseases, Mutation, Female, sense organs, medicine.symptom, business
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2
المؤلفون: Alex V. Levin, Richard G. Weleber, Patrick Y Tong, John R. Heckenlively, Edward F. Anhalt, Kerry E. McTaggart, Ian M. MacDonald, Jacquie Greenberg, Thomas Lee, Berkley R. Powell, Paul A. Sieving
المصدر: Canadian Journal of Ophthalmology. 38:364-372
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, genetic structures, Fundus Oculi, Hearing loss, Usher syndrome, Eye disease, Fundus (eye), Medical Records, Choroideremia, Diagnosis, Differential, Ophthalmology, Retinitis pigmentosa, medicine, Humans, Diagnostic Errors, Family history, Child, Eye Proteins, Adaptor Proteins, Signal Transducing, Aged, Retrospective Studies, Alkyl and Aryl Transferases, business.industry, DNA, General Medicine, Middle Aged, Macular dystrophy, medicine.disease, eye diseases, rab GTP-Binding Proteins, Child, Preschool, Mutation, Female, sense organs, medicine.symptom, business
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3
المؤلفون: Kerry E. McTaggart, Ian M. MacDonald, Christina Sereda, Ryan J. Yau, Yves Sauve
المصدر: Documenta ophthalmologica. Advances in ophthalmology. 114(3)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Visual acuity, genetic structures, Eye disease, Electro oculogram, DNA Mutational Analysis, Visual Acuity, Fundus (eye), Biology, Polymerase Chain Reaction, Choroideremia, Retina, Physiology (medical), medicine, Humans, Pigment Epithelium of Eye, Adaptor Proteins, Signal Transducing, Retinal pigment epithelium, Arden ratio, Middle Aged, medicine.disease, eye diseases, Sensory Systems, Ophthalmology, Electrooculography, medicine.anatomical_structure, rab GTP-Binding Proteins, Mutation, Female, sense organs, medicine.symptom
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4
المؤلفون: Ian M. MacDonald, Christina Sereda, Kerry E. McTaggart, Dean Mah
المصدر: Expert review of molecular diagnostics. 4(4)
مصطلحات موضوعية: Male, Enzyme complex, RNA Splicing, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Rab geranylgeranyltransferase, Choroideremia, Pathology and Forensic Medicine, RAB ESCORT PROTEIN 1, Multienzyme Complexes, Genetics, medicine, Humans, Amino Acid Sequence, Molecular Biology, Gene, Diagnostic Techniques and Procedures, Adaptor Proteins, Signal Transducing, Alkyl and Aryl Transferases, biology, Base Sequence, medicine.disease, biology.protein, Mutation testing, Molecular Medicine, Female, GTP Phosphohydrolase Activators, Rab
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5
المؤلفون: Jacque L. Duncan, Kerry E. McTaggart, Ian M. MacDonald, George Nune, Min Wang, Marsha C. Cheung
المصدر: American journal of ophthalmology. 137(1)
مصطلحات موضوعية: medicine.medical_specialty, Heterozygote, genetic structures, Eye disease, Multifocal ERG, Visual Acuity, Choroideremia, Retina, chemistry.chemical_compound, Retinal Diseases, Ophthalmology, medicine, Electroretinography, Humans, Scotoma, Central scotoma, Aged, business.industry, Retinal, medicine.disease, eye diseases, Retinal dysfunction, medicine.anatomical_structure, chemistry, Female, sense organs, Visual Fields, business, Erg
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6
المؤلفون: Ian M. MacDonald, Matthew T.S. Tennant, Marc Hébert, Sarah J Flynn, Matthew A. Lines, Kerry E. McTaggart
المصدر: Ophthalmology. 109(10)
مصطلحات موضوعية: Adult, Male, Rhodopsin, genetic structures, Adolescent, Fundus Oculi, Genetic Linkage, Molecular Sequence Data, Visual Acuity, Biology, Frameshift mutation, chemistry.chemical_compound, Retinal Rod Photoreceptor Cells, medicine, Electroretinography, Humans, Amino Acid Sequence, Frameshift Mutation, Aged, Genes, Dominant, Genetics, Aged, 80 and over, Homeodomain Proteins, Retina, medicine.diagnostic_test, Dystrophy, Chromosome Mapping, Retinal, Macular dystrophy, Middle Aged, eye diseases, Pedigree, Ophthalmology, medicine.anatomical_structure, Phenotype, chemistry, Haplotypes, Retinal Cone Photoreceptor Cells, Trans-Activators, Female, sense organs, Color Perception, Retinitis Pigmentosa, Visual phototransduction, Photopic vision
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7
المؤلفون: Mai Tran, Sarah W. Lai, Ian M. MacDonald, Kerry E. McTaggart, Dean Y. Mah, Nancy Nesslinger
المصدر: Human mutation. 20(3)
مصطلحات موضوعية: Retinal degeneration, Male, DNA, Complementary, DNA Mutational Analysis, Immunoblotting, Gene mutation, medicine.disease_cause, Choroideremia, RAB ESCORT PROTEIN 1, Exon, Genetics, medicine, Humans, Gene, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Adaptor Proteins, Signal Transducing, Family Health, Mutation, Alkyl and Aryl Transferases, Polymorphism, Genetic, biology, DNA, medicine.disease, Molecular biology, Stop codon, rab GTP-Binding Proteins, biology.protein, Female