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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: Audo, I., Bujakowska, K., Orhan, E., Poloschek, C.M., Defoort-Dhellemmes, S., Drumare, I., Kohl, S., Luu, T.D., Lecompte, O., Zrenner, E., Lancelot, M.E., Antonio, A., Germain, A., Michiels, C., Audier, C., Letexier, M., Saraiva, J.P., Leroy, B.P., Munier, F.L., Mohand-Saïd, S., Lorenz, B., Friedburg, C., Preising, M., Kellner, U., Renner, A.B., Moskova-Doumanova, V., Berger, W., Wissinger, B., Hamel, C.P., Schorderet, D.F., De Baere, E., Sharon, D., Banin, E., Jacobson, S.G., Bonneau, D., Zanlonghi, X., Le Meur, G., Casteels, I., Koenekoop, R., Long, V.W., Meire, F., Prescott, K., de Ravel, T., Simmons, I., Nguyen, H., Dollfus, H., Poch, O., Léveillard, T., Nguyen-Ba-Charvet, K., Sahel, J.A., Bhattacharya, S.S., Zeitz, C.
المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 321-330
مصطلحات موضوعية: Alleles, Animals, Electroretinography/methods, Exome, Female, Genetic Heterogeneity, Genotyping Techniques/methods, Heterozygote, Homozygote, Humans, Male, Mice, Mutation, Myopia/genetics, Night Blindness/genetics, Phenotype, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Proteoglycans/genetics, Receptors, G-Protein-Coupled/genetics, Metabotropic Glutamate/genetics, Retina/abnormalities, TRPM Cation Channels/genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22325361; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_9A4CCAD20012Test; urn:issn:0002-9297
الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.007Test
https://serval.unil.ch/notice/serval:BIB_9A4CCAD20012Test -
3دورية أكاديمية
المؤلفون: Vanlander, Arnaud, Jorens, PG, Smet, Joél, De Paepe, Boel, Verbrugghe, W, Van den Eynden, GG, Meire, F, Pauwels, P, Van der Aa, N, Seneca, S, Lissens, W, Okun, JG, Van Coster, Rudy
المصدر: ACTA ANAESTHESIOLOGICA SCANDINAVICA ; ISSN: 0001-5172
مصطلحات موضوعية: Medicine and Health Sciences, GENERAL ANESTHETIC 2, 6-DIISOPROPYLPHENOL, HEREDITARY OPTIC NEUROPATHY, RAT-LIVER MITOCHONDRIA, LACTIC-ACIDOSIS, RESPIRATION, CHILDREN, DISORDERS, DIAGNOSIS, MUTATION, FAILURE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/2130516Test; http://hdl.handle.net/1854/LU-2130516Test; http://dx.doi.org/10.1111/j.1399-6576.2011.02628.xTest; https://biblio.ugent.be/publication/2130516/file/6771806Test
الإتاحة: https://doi.org/10.1111/j.1399-6576.2011.02628.xTest
https://biblio.ugent.be/publication/2130516Test
http://hdl.handle.net/1854/LU-2130516Test
https://biblio.ugent.be/publication/2130516/file/6771806Test -
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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 -
5دورية أكاديمية
المؤلفون: Richardson, R, Donnai, D, Meire, F, Dixon, M J
المصدر: Richardson , R , Donnai , D , Meire , F & Dixon , M J 2004 , ' Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly ' , Journal of Medical Genetics , vol. 41 , no. 1 , pp. 60-7 .
مصطلحات موضوعية: Abnormalities, Multiple, Amino Acid Sequence, Animals, Cattle, Connexin 43, Craniofacial Abnormalities, Cricetinae, Embryo, Mammalian, Eye Abnormalities, Fingers, Gene Expression Regulation, Developmental, Humans, Mice, Molecular Sequence Data, Mutation, Missense, Phenotype, Rats, Sequence Alignment, Syndactyly, Syndrome, Tooth Abnormalities
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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 -
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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 VISIONمصطلحات 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