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المؤلفون: Guy Van Camp, Kathelijn Keymolen, Konstantinos Nikopoulos, L. Ingeborgh van den Born, Rob W.J. Collin, Isabelle Schrauwen, Marc Veckeneer, Frans P.M. Cremers, Marleen Simon
المصدر: Investigative Ophthalmology and Visual Science, 52, 4774-9
Investigative ophthalmology and visual science
Investigative Ophthalmology and Visual Science, 52, 7, pp. 4774-9مصطلحات موضوعية: Adult, Male, Proband, Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Visual Acuity, Biology, Collagen Type IX, Cataracts, medicine, Humans, Genetic Predisposition to Disease, Stickler syndrome, Connective Tissue Diseases, Aged, Genetics, Arthritis, Haplotype, Retinal Detachment, Retinal detachment, DNA, Middle Aged, Prognosis, medicine.disease, eye diseases, Pedigree, Phenotype, Mutation, Female, Sensorineural hearing loss, Human medicine, sense organs, medicine.symptom, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Tomography, Optical Coherence, SNP array
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b1ec86daaac9b729f0b9368a764d29Test
https://doi.org/10.1167/iovs.10-7128Test -
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المؤلفون: Robert W A M Kuijpers, Carel B. Hoyng, Alberta A H J Thiadens, Caroline C W Klaver, Ville Somervuo, L. Ingeborgh van den Born, Mary J. van Schooneveld, Susanne Roosing, Frans P.M. Cremers, Norka van Moll-Ramirez
المساهمون: Netherlands Institute for Neuroscience (NIN), Surgical clinical sciences, Ophthalmology
المصدر: Investigative Ophthalmology and Visual Science, 51, 5952-7
Investigative Ophthalmology & Visual Science, 51, 5952-5957. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 51(11), 5952-5957. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 51, 11, pp. 5952-7مصطلحات موضوعية: Male, Fovea Centralis, Pathology, Visual acuity, Achromatopsia, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Visual Acuity, Retinal Cone Photoreceptor Cells/pathology, Color Vision Defects, chemistry.chemical_compound, 0302 clinical medicine, Child, Medicine(all), 0303 health sciences, GNAT2, Cell Death, Genetic Diseases, X-Linked, Middle Aged, Color Vision Defects/diagnosis, Cyclic Nucleotide-Gated Cation Channels/genetics, medicine.anatomical_structure, Child, Preschool, Retinal Cone Photoreceptor Cells, Female, medicine.symptom, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Cyclic Nucleotide-Gated Cation Channels, Eye Proteins/genetics, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Ophthalmology, medicine, Humans, Eye Proteins, Aged, 030304 developmental biology, Fovea Centralis/abnormalities, Cyclic Nucleotide Phosphodiesterases, Type 6, Retina, business.industry, Cyclic Nucleotide Phosphodiesterases, Type 6/genetics, Fovea centralis, Retinal, medicine.disease, Cone cell, chemistry, Evaluation of complex medical interventions [NCEBP 2], Genetic Diseases, X-Linked/diagnosis, 030221 ophthalmology & optometry, sense organs, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b54cbd7d3d422c5d62c9ad816bcf9ecaTest
https://doi.org/10.1167/iovs.10-5680Test -
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المؤلفون: Sandro Banfi, Eliot L. Berson, Debashis Ghosh, Federico Gonzalez-Fernandez, Thaddeus P. Dryja, Carmela Ziviello, Terri L. McGee, Anneke I. den Hollander
المصدر: Investigative Ophthalmology and Visual Science, 50, 4, pp. 1864-72
Investigative Ophthalmology and Visual Science, 50, 1864-72مصطلحات موضوعية: Male, Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Mutation, Missense, Genes, Recessive, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Consanguinity, chemistry.chemical_compound, Retinitis pigmentosa, Electroretinography, medicine, Humans, Missense mutation, Eye Proteins, DNA Primers, Genetics, Mutation, Retina, Retinal pigment epithelium, Homozygote, Retinal, medicine.disease, Molecular biology, eye diseases, Pedigree, Protein Structure, Tertiary, Ophthalmoscopy, Retinol-Binding Proteins, medicine.anatomical_structure, chemistry, Female, sense organs, Retinitis Pigmentosa, Tomography, Optical Coherence, RBP3, Visual phototransduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314f6ffe3596a4bdf095d2382604705eTest
https://doi.org/10.1167/iovs.08-2497Test -
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المؤلفون: Krysta Voesenek, Franc¸oise Meire, Ronald Roepman, Thomy de Ravel, José P Martinez Ciriano, Johannes R.M. Cruysberg, Ulrich Kellner, Elfride De Baere, Bart P. Leroy, L. Ingeborgh van den Born, Ingele Casteels, Anneke I. den Hollander, Norka van Moll-Ramirez, Jan-Tjeerd H. N. de Faber, Klaus Rohrschneider, Rando Allikmets, Frans P.M. Cremers, Marijke N. Zonneveld, Suzanne Yzer
المساهمون: Clinical sciences, Medical Genetics
المصدر: Investigative Ophthalmology and Visual Science, 47, 1167-76
Investigative Ophthalmology and Visual Science, 47, 3, pp. 1167-76مصطلحات موضوعية: Receptors, Cell Surface/genetics, Male, Carrier Proteins/genetics, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Microarray, DNA Mutational Analysis, Oligonucleotide Array Sequence Analysis/methods, Blindness, medicine.disease_cause, Alcohol Oxidoreductases/genetics, Blindness/congenital, Genotype, Perception and Action [DCN 1], Nerve Tissue Proteins/genetics, Neurosensory disorders [UMCN 3.3], Child, Renal disorder [IGMD 9], Oligonucleotide Array Sequence Analysis, Genetics, Mutation, CRB1, Phenotype, Child, Preschool, GUCY2D, Female, Genetic Testing/methods, Retinitis Pigmentosa, cis-trans-Isomerases, Sequence analysis, Guanylate Cyclase/genetics, Nerve Tissue Proteins, Receptors, Cell Surface, Eye Proteins/genetics, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Retinitis Pigmentosa/congenital, medicine, Humans, Genetic Testing, Membrane Proteins/genetics, Eye Proteins, Adaptor Proteins, Signal Transducing, Infant, Membrane Proteins, eye diseases, Alcohol Oxidoreductases, Guanylate Cyclase, Cis-trans-Isomerases, Gene chip analysis, sense organs, Carrier Proteins
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c414e17a40bbb91059effcd5ecc5683Test
https://doi.org/10.1167/iovs.05-0848Test
