المؤلفون: Vozzi D., Aaspollu A., Athanasakis E., Berto A., Fabretto A., Licastro D., Kulm M., Testa F., Vahter M., Ziviello C., Simonelli F., Banfi S., Gasparini P., TREVISI, PATRIZIA, MARTINI, ALESSANDRO

المساهمون: Vozzi, D., Aaspollu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Kulm, M., Testa, F., Trevisi, Patrizia, Vahter, M., Ziviello, C., Martini, Alessandro, Simonelli, F., Banfi, S., Gasparini, P.

مصطلحات موضوعية: Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21738395; info:eu-repo/semantics/altIdentifier/wos/WOS:000292055100001; volume:17; issue:184-185; firstpage:1662; lastpage:1668; numberofpages:6; journal:MOLECULAR VISION; http://hdl.handle.net/11577/2525829; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960011547

الاتاحة: http://hdl.handle.net/11577/2525829

المؤلفون: Cremers, F. P M, Kimberling, W. J, Kulm, M., de Brouwer, A. P, van Wijk, E., te Brinke, H., Cremers, C. W R J, Hoefsloot, L. H, Banfi, S., Simonelli, F., Fleischhauer, J. C, Berger, W., Kelley, P. M, Haralambous, E., Bitner-Glindzicz, M., Webster, A. R, Saihan, Z., De Baere, E., Leroy, B. P, Silvestri, G., McKay, G. J, Koenekoop, R. K, Millan, J. M, Rosenberg, T., Joensuu, T., Sankila, E.-M., Weil, D., Weston, M. D, Wissinger, B., Kremer, H.

المصدر: Journal of Medical Genetics ; volume 44, issue 2, page 153-160 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2006.044784
https://syndication.highwire.org/content/doi/10.1136/jmg.2006.044784

المؤلفون: Vámos Rita, Kulm M, Szabó Viktória, Ahman A, Lesch Balázs, Schneider Miklós, Varsányi Balázs, Nagy Zoltán Zsolt, Németh János Tibor, Farkas Ágnes

المساهمون: SE/AOK/K/Szemészeti Klinika, Semmelweis Egyetem

Relation: urn:issn:1120-6721; http://repo.lib.semmelweis.hu//handle/123456789/5313; 2961057; 000372258400014

الاتاحة: http://repo.lib.semmelweis.hu//handle/123456789/5313
https://doi.org/10.5301/ejo.5000643

المؤلفون: Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, TESTA, Francesco, Trevisi P, Vahter M, Ziviello C, Martini A, SIMONELLI, Francesca, BANFI, Sandro, Gasparini P.

المساهمون: Vozzi, D, Aaspõllu, A, Athanasakis, E, Berto, A, Fabretto, A, Licastro, D, Külm, M, Testa, Francesco, Trevisi, P, Vahter, M, Ziviello, C, Martini, A, Simonelli, Francesca, Banfi, Sandro, Gasparini, P.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000292055100001; volume:17; firstpage:1662; lastpage:1668; numberofpages:7; journal:MOLECULAR VISION; http://hdl.handle.net/11591/181629; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79960011547

الاتاحة: http://hdl.handle.net/11591/181629

المؤلفون: Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik Glavac M, Hawlina M, Meltzer MR, Caruso RC, TESTA, Francesco, Maugeri A, Hoyng CB, Gouras P, SIMONELLI, Francesca, Lewis RA, Lupski JR, Cremers FP, Allikmets R.

المساهمون: Jaakson, K, Zernant, J, Külm, M, Hutchinson, A, Tonisson, N, Glavac, D, Ravnik Glavac, M, Hawlina, M, Meltzer, Mr, Caruso, Rc, Testa, Francesco, Maugeri, A, Hoyng, Cb, Gouras, P, Simonelli, Francesca, Lewis, Ra, Lupski, Jr, Cremers, Fp, Allikmets, R.

Relation: info:eu-repo/semantics/altIdentifier/pmid/14517951; info:eu-repo/semantics/altIdentifier/wos/WOS:000186299100007; volume:22; issue:5; firstpage:395; lastpage:403; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/11591/236555; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744227207

الاتاحة: http://hdl.handle.net/11591/236555
https://doi.org/10.1002/humu.10263

المؤلفون: Zernant, J., Kulm, M., Dharmaraj, S., Hollander, A.I. den, Perrault, I., Preising, M.N., Lorenz, B., Kaplan, J., Cremers, F.P.M., Maumenee, I.H., Koenekoop, R.K., Allikmets, R.

المصدر: Investigative Ophthalmology and Visual Science, 46, 9, pp. 3052-9

مصطلحات موضوعية: DCN 1: Perception and Action, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease, UMCN 3.3: Neurosensory disorders

Relation: http://hdl.handle.net/2066/47794

الاتاحة: http://hdl.handle.net/2066/47794
https://doi.org/10.1167/iovs.05-0111

المؤلفون: Gojová, L., Jansová, E., Külm, M., Pouchlá, S., Kozák, L.

المصدر: Clinical Genetics; May2008, Vol. 73 Issue 5, p441-452, 12p, 4 Charts, 1 Graph

مصطلحات موضوعية: GENETIC polymorphisms, GENETIC mutation, PROTEIN microarrays, DNA microarrays, POLYMERASE chain reaction, BIOCHEMISTRY

المؤلفون: Vozzi, D., Aaspõllu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Külm, M., Testa, F., Trevisi, P., Vahter, M., Ziviello, C., Martini, A., Simonelli, F., Sandro BANFI, Gasparini, P.

المساهمون: Vozzi, D, Aaspõllu, A, Athanasakis, E, Berto, A, Fabretto, A, Licastro, D, Külm, M, Testa, Francesco, Trevisi, P, Vahter, M, Ziviello, C, Martini, A, Simonelli, Francesca, Banfi, Sandro, Gasparini, P., Vozzi, Diego, Aaspõllu, Anu, Athanasakis, Emmanouil, Berto, Anna, Fabretto, Antonella, Licastro, Danilo, Külm, Maigi, Trevisi, Patrizia, Vahter, Marju, Ziviello, Carmela, Martini, Alessandro, Gasparini, Paolo

المصدر: Scopus-Elsevier
Europe PubMed Central
Molecular Vision

مصطلحات موضوعية: Heterozygote, Usher Syndrome, Apex-based genotyping approach, molecular assessment, SYNDROME-TYPE-II, SYNDROME TYPE 1F, GENOTYPING MICROARRAY, GENETIC-HETEROGENEITY, CAUSE DEAFNESS, Genotype, DNA Mutational Analysis, Severity of Illness Index, Genetic Heterogeneity, otorhinolaryngologic diseases, Humans, Age of Onset, Hearing Loss, Alleles, Oligonucleotide Array Sequence Analysis, Molecular Epidemiology, Homozygote, Ophthalmology, Phenotype, Italy, Mutation, Usher Syndromes, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b3ac0df646e36aaf8ed07dd337750bfa
http://www.scopus.com/inward/record.url?eid=2-s2.0-79960011547&partnerID=MN8TOARS