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المؤلفون: Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen

المساهمون: Human Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Netherlands Institute for Neuroscience (NIN), Human genetics

المصدر: Kruijt, C C, Gradstein, L, Bergen, A A, Florijn, R J, Arveiler, B, Lasseaux, E, Zanlonghi, X, Bagdonaite-Bejaran, L, Fulton, A B, Yahalom, C, Blumenfeld, A, Perez, Y, Birk, O S, de Wit, G C, Schalij-Delfos, N E & van Genderen, M M 2022, ' The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism : Similarities and Differences ', Investigative Ophthalmology and Visual Science, vol. 63, no. 1, 19 . https://doi.org/10.1167/iovs.63.1.19
Investigative Ophthalmology & Visual Science, 63(1). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 63(1):19. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 63(1). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 63(1):19

مصطلحات موضوعية: Adult, Male, Fovea Centralis, FHONDA, Adolescent, genetic structures, DNA Mutational Analysis, Visual Acuity, misrouting, Young Adult, Anterior Eye Segment, Humans, Child, Aged, Retrospective Studies, Clinical and Epidemiologic Research, Infant, DNA, Syndrome, Middle Aged, eye diseases, melanin, Amino Acid Transport Systems, Neutral, Phenotype, SLC38A8, Albinism, Oculocutaneous, Child, Preschool, Mutation, foveal hypoplasia, Female, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325324e4b89613cc2a8007ac34b667ab
https://hdl.handle.net/1887/3485320

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المؤلفون: Ahmadi, Khazar, Fracasso, Alessio, van Dijk, Jelle A, Kruijt, Charlotte, van Genderen, Maria, Dumoulin, Serge O, Hoffmann, Michael B, Leerstoel Dumoulin, Helmholtz Institute, Experimental Psychology (onderzoeksprogramma PF), Afd Psychologische functieleer

المساهمون: Cognitive Psychology, Spinoza Centre for Neuroimaging, Leerstoel Dumoulin, Helmholtz Institute, Experimental Psychology (onderzoeksprogramma PF), Afd Psychologische functieleer

المصدر: NeuroImage, 190, 224. Academic Press Inc.
Ahmadi, K, Fracasso, A, van Dijk, J A, Kruijt, C, van Genderen, M, Dumoulin, S O & Hoffmann, M B 2019, ' Altered organization of the visual cortex in FHONDA syndrome ', NeuroImage, vol. 190, pp. 224-231 . https://doi.org/10.1016/j.neuroimage.2018.02.053
NeuroImage, 190, 224-231. Academic Press Inc.
NeuroImage, 190, 224-231. Academic Press
NeuroImage

مصطلحات موضوعية: Adult, Fovea Centralis, FHONDA, genetic structures, Plasticity, Cognitive Neuroscience, Population, Optic chiasm, Review, Biology, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Anterior Eye Segment, Neuroplasticity, Journal Article, medicine, Humans, Visual Pathways, 0501 psychology and cognitive sciences, Eye Abnormalities, Visual cortex, education, pRF, Brain Mapping, Retina, education.field_of_study, Neuronal Plasticity, 05 social sciences, fMRI, Optic Nerve, Magnetic Resonance Imaging, eye diseases, medicine.anatomical_structure, Meridian (perimetry, visual field), Neurology, Receptive field, Optic Chiasm, Visual Pathway Disorder, Visual Perception, Female, Visual Fields, Neuroscience, Photic Stimulation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7fdd81ed31ea9d812bc25a284617f8c
https://dspace.library.uu.nl/handle/1874/407573

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المؤلفون: Rebecca A. Shields, Kara M. Cavuoto, Ta C. Chang, Craig A. McKeown

المصدر: Clinical Case Reports

مصطلحات موضوعية: Decussation, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, genetic structures, business.industry, aniridia, General Medicine, Case Reports, medicine.disease, Hypoplasia, eye diseases, Dysgenesis, Aniridia, Foveal, Ophthalmology, medicine, Optic nerve, anterior segment dysgenesis, In patient, sense organs, Differential diagnosis, medicine.symptom, business, Foveal hypoplasia, FHONDA syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc69b27e4eea91046fead7e351d24d75
http://europepmc.org/articles/PMC4527823

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مصطلحات الفهرس: Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA), Albinism, Mouse model, Clustered regularly interspaced short palindromic repeats (CRISPR), Low vision, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10045/138146
https://doi.org/10.1167/iovs.64.13.32
https://doi.org/10.1167/iovs.64.13.32
info:eu-repo/grantAgreement/MINECO//BIO2015-70978-R
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018-101223-B-I00
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-106230RB-I00