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

المؤلفون: Kestelijn P, De Boulle K, Reyniers E, Devries K, P. J. Willems, Meire F, Van Thienen Mn

المصدر: Genomics. 29:323-328

مصطلحات موضوعية: Male, Opsin, X Chromosome, Genetic Linkage, Molecular Sequence Data, Gene Conversion, Color Vision Defects, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Retinal Cone Photoreceptor Cells, Exon, Genetics, medicine, Humans, Point Mutation, Gene conversion, DNA Primers, Mutation, Base Sequence, Rod Opsins, Chromosome Mapping, Gene rearrangement, Pedigree, OPN1LW, Female, sense organs, Color Perception

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e6bb08ac25f4597c25fdabc3ff68855Test
https://doi.org/10.1006/geno.1995.9998Test

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

الإتاحة: https://lirias.kuleuven.be/handle/123456789/17228Test
http://link.springer.de/link/service/journals/00415/bibs/0247007/02470535.htmTest

المؤلفون: Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Thomas Meitinger, Meire F, Cochaux P, Blankenagel A, Kommerell G

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Letter, Belgium, Optic Atrophies, Hereditary, Germany, Mutation, Humans, Female, DNA Probes, DNA, Mitochondrial, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::73c5383ba29117f9892b0d4df009185bTest
https://pubmed.ncbi.nlm.nih.gov/7977345Test

المؤلفون: Meire F, Delpierre I, Brachet C, Roulez F, Van Nechel C, Depasse F, Christophe C, Björn Menten, De Baere E

المصدر: Scopus-Elsevier
Europe PubMed Central
Molecular Vision
MOLECULAR VISION

مصطلحات موضوعية: Male, Genetic Linkage, DNA Mutational Analysis, Gene Dosage, MURINE DEVELOPMENT, Neuroimaging, Tretinoin, HORMONE DEFICIENCY, Cytochrome P-450 Enzyme System, Medicine and Health Sciences, Humans, Microphthalmos, MALFORMATIONS, Eye Proteins, Cytochrome P450 Family 26, Genes, Dominant, RETINOIC-ACID, ACID-METABOLIZING ENZYME, OTHERWISE HEALTHY INFANT, MUTATIONS, CHIASM, Chromosomes, Human, Pair 10, Vision Tests, ANOPHTHALMIA, Chromosome Mapping, Optic Nerve, Middle Aged, Retinoic Acid 4-Hydroxylase, Pedigree, Phenotype, Child, Preschool, Asymptomatic Diseases, Mutation, Female, GROWTH-HORMONE, Research Article, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5c8d2c97a48ec1da129615c377c8e20eTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-79961220664&partnerID=MN8TOARSTest