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1دورية أكاديمية
المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.
المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.017Test
https://serval.unil.ch/notice/serval:BIB_D94870497C06Test
https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test -
2دورية أكاديمية
المؤلفون: Coppieters, F, Casteels, I, Meire, F, De Jaegere, S, Hooghe, S, van Regemorter, N, Van Esch, H, Matuleviciene, A, Nunes, L, Meersschaut, V, Walraedt, S, Standaert, L, Coucke, P, Hoeben, H, Kroes, H, Vande Walle, J, de Ravel, T, Leroy, B, De Baere, E
مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adolescent, Adult, Antigens, Neoplasm, Belgium, Child, Preschool, DNA Mutational Analysis, Gene Expression Profiling, Genotype, Humans, Infant, Leber Congenital Amaurosis, Middle Aged, Neoplasm Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, Proteins, Retinal Degeneration, Retinal Dystrophies, Young Adult, Alleles, Genetic Testing, HDE - GEN
العلاقة: Hum Mutat. 2010 Oct;31(10):E1709-66; http://hdl.handle.net/10400.17/2486Test
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3دورية أكاديمية
المؤلفون: Lafaut, B A, Meire, F M, Leys, A M, Dralands, Godelieve, De Laey, J J
مصطلحات موضوعية: Adolescent, Adult, Animals, Child, Choroid, Choroidal Neovascularization, Cicatrix, Fluorescein Angiography, Fundus Oculi, Hemangioma, Capillary, Humans, Hypertrophy, Indocyanine Green, Infant, Laser Coagulation, Retina, Retinal Neoplasms, Retinal Neovascularization, Retrospective Studies, Toxoplasmosis, Congenital, Ocular, Vitrectomy
العلاقة: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie vol:237 issue:12 pages:1033-8; https://lirias.kuleuven.be/handle/123456789/17733Test; http://link.springer.de/link/service/journals/00417/bibs/9237012/92371033.htmTest
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4دورية أكاديميةMitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis
المؤلفون: Vanopdenbosch, L, Dubois, B, D'Hooghe, M B, Meire, F, Carton, Herwig
مصطلحات موضوعية: Adult, Aged, DNA Mutational Analysis, DNA, Mitochondrial, Female, Genetic Screening, Humans, Male, Middle Aged, Multiple Sclerosis, Optic Atrophies, Hereditary, Pedigree, Risk Factors, Severity of Illness Index
العلاقة: Journal of neurology vol:247 issue:7 pages:535-43; https://lirias.kuleuven.be/handle/123456789/17228Test; http://link.springer.de/link/service/journals/00415/bibs/0247007/02470535.htmTest
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5دورية أكاديمية
المؤلفون: Dal Cin, Paola, Sciot, Raphael, Speleman, F, Samson, Ignace, Laureys, G, de Potter, C, Meire, F, Van Damme, Boudewijn, Van den Berghe, Herman
مصطلحات موضوعية: Adult, Child, Chromosome Aberrations, Chromosomes, Human, Pair 11, Pair 2, Pair 6, Female, Fibrous Dysplasia of Bone, Humans, Karyotyping
العلاقة: Cancer Genetics and Cytogenetics vol:77 issue:2 pages:114-7; https://lirias.kuleuven.be/handle/123456789/28047Test
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6دورية أكاديمية
المؤلفون: Buys, K, Casteels, Ingele, Vianna, R, Dralands, Godelieve, Leys, Anita, Meire, F, Missotten, Luc
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Chorioretinitis, Cicatrix, Humans, Long-Term Care, Toxoplasmosis, Ocular, Visual Acuity
العلاقة: Bulletin de la Société belge d'ophtalmologie vol:248 pages:59; https://lirias.kuleuven.be/handle/123456789/18136Test