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1دورية أكاديمية
المؤلفون: Nuovo S., Micalizzi A., Romaniello R., Arrigoni F., Ginevrino M., Casella A., Serpieri V., D'Arrigo S., Briguglio M., Salerno G. G., Rossato S., Sartori S., Leuzzi V., Battini R., Ben-Zeev B., Graziano C., Mirabelli Badenier M., Brankovic V., Nardocci N., Spiegel R., Petkovic RamadAa D., Vento G., Marti I., Simonati A., Dipresa S., Freri E., Mazza T., Bassi M. T., Bosco L., Travaglini L., Zanni G., Bertini E. S., Vanacore N., Borgatti R., Valente E. M.
المساهمون: Nuovo, S., Micalizzi, A., Romaniello, R., Arrigoni, F., Ginevrino, M., Casella, A., Serpieri, V., D'Arrigo, S., Briguglio, M., Salerno, G. G., Rossato, S., Sartori, S., Leuzzi, V., Battini, R., Ben-Zeev, B., Graziano, C., Mirabelli Badenier, M., Brankovic, V., Nardocci, N., Spiegel, R., Petkovic RamadAa, D., Vento, G., Marti, I., Simonati, A., Dipresa, S., Freri, E., Mazza, T., Bassi, M. T., Bosco, L., Travaglini, L., Zanni, G., Bertini, E. S., Vanacore, N., Borgatti, R., Valente, E. M.
مصطلحات موضوعية: and neonatal diseases and abnormalitie, cerebellar disease, congenital, genetic, genotype, hereditary, medical, phenotype
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34085948; info:eu-repo/semantics/altIdentifier/wos/WOS:000728642300001; volume:59; issue:4; firstpage:399; lastpage:409; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3441337Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102197986
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2دورية أكاديمية
المؤلفون: Giorgi G, Donà M, Graziano C, Picci L, CASARIN, ALBERTO, TREVISSON, EVA, CASSINA, MATTEO, CLEMENTI, MAURIZIO, SALVIATI, LEONARDO
المساهمون: Giorgi, G, Casarin, Alberto, Trevisson, Eva, Donà, M, Cassina, Matteo, Graziano, C, Picci, L, Clementi, Maurizio, Salviati, Leonardo
مصطلحات موضوعية: CFTR, splicing, minigene assay
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25781545; info:eu-repo/semantics/altIdentifier/wos/WOS:000362510000018; volume:53; issue:11; firstpage:1719; lastpage:1723; numberofpages:5; journal:CLINICAL CHEMISTRY AND LABORATORY MEDICINE; http://hdl.handle.net/11577/3146956Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944062479; https://www.degruyter.com/view/j/cclm.2015.53.issue-11/cclm-2014-1047/cclm-2014-1047.xmlTest
الإتاحة: https://doi.org/10.1515/cclm-2014-1047Test
http://hdl.handle.net/11577/3146956Test
https://www.degruyter.com/view/j/cclm.2015.53.issue-11/cclm-2014-1047/cclm-2014-1047.xmlTest -
3دورية أكاديمية
المؤلفون: Lenarduzzi S., Morgan A., Faletra F., Cappellani S., Morgutti M., Mezzavilla M., Peruzzi A., Ghiselli S., Ambrosetti U., Graziano C., Seri M., Gasparini P., Girotto G.
المساهمون: Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P., Girotto, G.
مصطلحات موضوعية: Molecular diagnosi, Syndromic hearing lo, Targeted re-sequencing, Usher syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000487170200003; volume:381; firstpage:107769; journal:HEARING RESEARCH; http://hdl.handle.net/11577/3455542Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070096752
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4دورية أكاديمية
المؤلفون: Harel T., Yoon W. H., Garone C., Gu S., Coban-Akdemir Z., Eldomery M. K., Posey J. E., Jhangiani S. N., Rosenfeld J. A., Cho M. T., Fox S., Withers M., Brooks S. M., Chiang T., Duraine L., Erdin S., Yuan B., Shao Y., Moussallem E., Lamperti C., Donati M. A., Smith J. D., McLaughlin H. M., Eng C. M., Walkiewicz M., Xia F., Pippucci T., Magini P., Seri M., Zeviani M., Hirano M., Hunter J. V., Srour M., Zanigni S., Lewis R. A., Muzny D. M., Lotze T. E., Boerwinkle E., Gibbs R. A., Hickey S. E., Graham B. H., Yang Y., Buhas D., Martin D. M., Potocki L., Graziano C., Bellen H. J., Lupski J. R.
المساهمون: Harel, T., Yoon, W. H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M. K., Posey, J. E., Jhangiani, S. N., Rosenfeld, J. A., Cho, M. T., Fox, S., Withers, M., Brooks, S. M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C., Donati, M. A., Smith, J. D., Mclaughlin, H. M., Eng, C. M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J. V., Srour, M., Zanigni, S., Lewis, R. A., Muzny, D. M., Lotze, T. E., Boerwinkle, E., Gibbs, R. A., Hickey, S. E., Graham, B. H., Yang, Yang, Buhas, D., Martin, D. M., Potocki, L., Graziano, C., Bellen, H. J., Lupski, J. R.
مصطلحات موضوعية: ATAD3A, cardiomyopathy, CNV, de novo variant, dominant negative, mitochondrial dynamic, neuropathy, optic atrophy, whole-exome sequencing, ATPases Associated with Diverse Cellular Activitie, Adenosine Triphosphatase, Adult, Animal, Axon, Cardiomyopathie, Child, Preschool, DNA Copy Number Variation, Developmental Disabilitie, Drosophila melanogaster, Female, Fibroblast, Homozygote, Human, Infant, Newborn, Male, Membrane Protein, Mitochondria, Mitochondrial Protein
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27640307; info:eu-repo/semantics/altIdentifier/wos/WOS:000385333700004; volume:99; issue:4; firstpage:831; lastpage:845; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354189Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991678519
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5دورية أكاديمية
المؤلفون: DOIMO, MARA, Desbats MA, Baldoin MC, Lenzini E, BASSO, GIUSEPPE, Murphy E, Graziano C, Seri M, Burlina A, SARTORI, GEPPO, TREVISSON, EVA, SALVIATI, LEONARDO
المساهمون: Doimo, Mara, Desbats, Ma, Baldoin, Mc, Lenzini, E, Basso, Giuseppe, Murphy, E, Graziano, C, Seri, M, Burlina, A, Sartori, Geppo, Trevisson, Eva, Salviati, Leonardo
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23076989; info:eu-repo/semantics/altIdentifier/wos/WOS:000314476900031; firstpage:229; lastpage:236; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11577/2529273Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84871612701
