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

المؤلفون: Van Camp, Guy, van Thienen, Marie-Noëlle, Handig, I., van Roy, B., Rao, V.S., Milunsky, A., Read, A.P., Baldwin, C.T., Farrer, L.A., Bonduelle, M., Standaert, L., Meire, F., Willems, P.J.

المصدر: Journal of medical genetics

مصطلحات موضوعية: Male, PAX3, Biology, Microphthalmia, Genetic Heterogeneity, Mice, Species Specificity, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Waardenburg Syndrome, Hirschsprung Disease, PAX3 Transcription Factor, Gene, Genetics (clinical), Regulation of gene expression, Microphthalmia-Associated Transcription Factor, Chromosomes, Human, Pair 13, Receptors, Endothelin, Waardenburg syndrome, Genetic heterogeneity, Genes, Homeobox, Infant, Newborn, Chromosome Mapping, Gene Expression Regulation, Developmental, Chromosome, medicine.disease, Microphthalmia-associated transcription factor, Receptor, Endothelin B, Mice, Mutant Strains, DNA-Binding Proteins, Neural Crest, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Lod Score, Microsatellite Repeats, Transcription Factors, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce0390ad8e2fab69c42444f1782ab1eTest
https://doi.org/10.1136/jmg.32.7.531Test

المؤلفون: Richardson, R. R., Donnai, D., Meire, F., Dixon, M. J.

المصدر: Richardson , R 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. 60-67 . https://doi.org/10.1136/jmg.2003.012005Test

مصطلحات موضوعية: genetics: Abnormalities, Multiple, genetics: Amino Acid Sequence, Animals, Cattle, chemistry: Connexin 43, genetics: Craniofacial Abnormalities, chemistry: Embryo, genetics: Eye Abnormalities, abnormalities: Fingers, genetics: Gene Expression Regulation, Developmental, Hamsters, Human, Mice, Molecular Sequence Data, genetics: Mutation, Missense, Phenotype, Rats, Sequence Alignment, Support, Non-U.S. Gov't, genetics: Syndactyly, Syndrome, genetics: Tooth Abnormalities

الإتاحة: https://doi.org/10.1136/jmg.2003.012005Test
https://research.manchester.ac.uk/en/publications/55b8eb48-38d6-4b0a-9148-1c0788f39d7dTest

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

الإتاحة: https://lirias.kuleuven.be/handle/123456789/17733Test
http://link.springer.de/link/service/journals/00417/bibs/9237012/92371033.htmTest