المؤلفون: Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M.K., Bedoni, N., Kjellström, U., El Zaoui, I., Di Gioia, S.A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S.V., Khan, M.I., Micheal, S., Boldt, K., Ueffing, M., Moulin, A.P., Cremers, F.P., Roepman, R., Arsenijevic, Y., Tsilimbaris, M.K., Andréasson, S., Rivolta, C.

المصدر: American journal of human genetics, vol. 99, no. 3, pp. 770-776

مصطلحات موضوعية: Aged, Alleles, Animals, Cadaver, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cilia/pathology, Cohort Studies, Cone-Rod Dystrophies/complications, Cone-Rod Dystrophies/genetics, Cone-Rod Dystrophies/pathology, Cone-Rod Dystrophies/physiopathology, Exome/genetics, Eye/embryology, Eye/metabolism, Eye Proteins/metabolism, Female, Fibroblasts/pathology, Greece, Hearing Loss, Sensorineural/complications, Sensorineural/genetics, Sensorineural/pathology, Sensorineural/physiopathology, Heterozygote, Homozygote, Humans, Introns/genetics, Male, Mice

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27588451; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4A7C86DC11B43; https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.009Test
https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test
https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

المؤلفون: Alexandre Moulin, Styliani V. Blazaki, Ikram El Zaoui, Yvan Arsenijevic, Basilio Giangreco, Konstantinos Nikopoulos, Sotiris Plainis, Katarina Cisarova, Ulrika Kjellström, Pietro Farinelli, Shazia Micheal, Frans P.M. Cremers, Silvio Alessandro Di Gioia, Sara Balzano, Andrea Messina, Martial Mbefo, Marius Ueffing, Sarah Decembrini, Muhammad Imran Khan, Sten Andréasson, Carlo Rivolta, Chrysanthi Tsika, Beryl Royer-Bertrand, Nicola Bedoni, Miltiadis K. Tsilimbaris, Karsten Boldt, Ronald Roepman

المصدر: American Journal of Human Genetics, 99, 770-6
American journal of human genetics, vol. 99, no. 3, pp. 770-776
American Journal of Human Genetics, 99, 3, pp. 770-6

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, Pathology, genetic structures, Usher syndrome, Cell Cycle Proteins, 030105 genetics & heredity, Compound heterozygosity, Eye, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, chemistry.chemical_compound, Mice, Exome, Genetics(clinical), Genetics (clinical), Genetics, Greece, Cilium, Homozygote, Middle Aged, Pedigree, Female, Usher Syndromes, Retinal Dystrophies, Protein Binding, medicine.medical_specialty, Heterozygote, Hearing Loss, Sensorineural, Biology, 03 medical and health sciences, Report, Retinitis pigmentosa, medicine, Cadaver, Animals, Humans, Cilia, RNA, Messenger, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Aged, Alleles, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cilia/pathology, Cone-Rod Dystrophies/complications, Cone-Rod Dystrophies/genetics, Cone-Rod Dystrophies/pathology, Cone-Rod Dystrophies/physiopathology, Exome/genetics, Eye/embryology, Eye/metabolism, Eye Proteins/metabolism, Fibroblasts/pathology, Hearing Loss, Sensorineural/complications, Hearing Loss, Sensorineural/genetics, Hearing Loss, Sensorineural/pathology, Hearing Loss, Sensorineural/physiopathology, Introns/genetics, Mutation/genetics, RNA, Messenger/analysis, Sweden, Transcriptome, Usher Syndromes/pathology, Eye Proteins, Genetic heterogeneity, Retinal, Fibroblasts, medicine.disease, eye diseases, Introns, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Mutation, sense organs, Cone-Rod Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b53d1a779d6a3ee28d103aefa2f1442dTest