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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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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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المؤلفون: Ian M. MacDonald, Christina Sereda, Monica M. Jablonski, Marco Mura, Alessandro Iannaccone
المساهمون: Other Research, Ophthalmology
المصدر: Archives of ophthalmology, 125(8), 1107-1113. American Medical Association
مصطلحات موضوعية: Adult, Male, Retinal Ganglion Cells, Proband, Pathology, medicine.medical_specialty, genetic structures, Choriocapillaris atrophy, Dark Adaptation, Fundus (eye), Polymerase Chain Reaction, Choroideremia, Ophthalmology, Electroretinography, Humans, Medicine, Genetic Predisposition to Disease, Pigment Epithelium of Eye, Adaptor Proteins, Signal Transducing, Retina, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, DNA, Middle Aged, Prognosis, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, rab GTP-Binding Proteins, Visual Field Tests, Female, sense organs, Visual Fields, business, Erg, Gene Deletion, Tomography, Optical Coherence, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46124a4567c19761e73089dab46107c
https://doi.org/10.1001/archopht.125.8.1107 -
4دورية أكاديمية
المؤلفون: Ryan Yau, Christina Sereda, Kerry McTaggart, Yves Sauvé, Ian MacDonald
المصدر: Documenta Ophthalmologica; May2007, Vol. 114 Issue 3, p147-151, 5p