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1دورية أكاديمية
المؤلفون: Ambrosini E., Montanari F., Cristalli C. P., Capelli I., La Scola C., Pasini A., Graziano C.
المساهمون: Ambrosini E., Montanari F., Cristalli C.P., Capelli I., La Scola C., Pasini A., Graziano C.
مصطلحات موضوعية: ADPKD, biallelic inheritance, disease modifier, hypomorphic variant, PKD1, PKD2
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37372410; info:eu-repo/semantics/altIdentifier/wos/WOS:001014949300001; volume:14; issue:6; firstpage:1; lastpage:13; numberofpages:13; journal:GENES; https://hdl.handle.net/11585/963527Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163847703; https://www.mdpi.com/2073-4425/14/6/1230Test
الإتاحة: https://doi.org/10.3390/genes14061230Test
https://hdl.handle.net/11585/963527Test
https://www.mdpi.com/2073-4425/14/6/1230Test -
2دورية أكاديمية
المؤلفون: Morgan A., Faletra F., Severi G., La Bianca M., Licchetta L., Gasparini P., Graziano C., Girotto G.
المساهمون: Morgan, A., Faletra, F., Severi, G., La Bianca, M., Licchetta, L., Gasparini, P., Graziano, C., Girotto, G.
مصطلحات موضوعية: Dual molecular diagnosi, Hereditary hearing lo, Whole-exome sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35052694; info:eu-repo/semantics/altIdentifier/wos/WOS:000749799600001; volume:10; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:12; journal:BIOMEDICINES; http://hdl.handle.net/11368/3010905Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122270055; https://www.mdpi.com/2227-9059/10/1/12Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/
الإتاحة: https://doi.org/10.3390/biomedicines10010012Test
http://hdl.handle.net/11368/3010905Test
https://www.mdpi.com/2227-9059/10/1/12Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/ -
3دورية أكاديمية
المؤلفون: Dias, K. R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C. A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., Douglas, J., Wilson, T. E., Guillen Sacoto, M. J., Mullegama, S. V., Palculict, T. B., Kirk, E. P., Pinner, J. R., Edwards, M., Montanari, F., Graziano, C., Pippucci, T., Dingmann, B., Glass, I., Mefford, H. C., Shimoji, T., Suzuki, T., Yamakawa, K., Streff, H., Schaaf, C. P., Slavotinek, A. M., Voineagu, I., Carey, J. C., Buckley, M. F., Schenck, A., Harvey, R. J., Roscioli, T.
مصطلحات موضوعية: Brain/metabolism, Gene Expression Regulation, Humans, Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics/metabolism, Protein Domains, Whole Exome Sequencing, Developmental delay, Intellectual disability, Protein hub, Zmynd8
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00803-6; Genet Med. 2022 Sep;24(9):1952-1966. doi:10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.; https://rde.dspace-express.com/handle/11287/622662Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.06.001Test
https://rde.dspace-express.com/handle/11287/622662Test -
4دورية أكاديمية
المؤلفون: Riva M., Martorana D., Uliana V., Caleffi E., Boschi E., Garavelli L., Ponti G., Sangiorgi L., Graziano C., Bigoni S., Rocchetti L. M., Madeo S., Soli F., Grosso E., Carli D., Goldoni M., Pisani F., Percesepe A.
المساهمون: Riva, M., Martorana, D., Uliana, V., Caleffi, E., Boschi, E., Garavelli, L., Ponti, G., Sangiorgi, L., Graziano, C., Bigoni, S., Rocchetti, L. M., Madeo, S., Soli, F., Grosso, E., Carli, D., Goldoni, M., Pisani, F., Percesepe, A.
مصطلحات موضوعية: genotype/phenotype, Neurofibromatosis type I, NF1 gene pathogenic variants
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000692464300001; volume:61; issue:1; firstpage:10; lastpage:21; numberofpages:12; journal:GENES, CHROMOSOMES & CANCER; https://hdl.handle.net/11573/1670079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114164596
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5دورية أكاديمية
المؤلفون: Johannesen K. M., Gardella E., Gjerulfsen C. E., Bayat A., Rouhl R. P. W., Reijnders M., Whalen S., Keren B., Buratti J., Courtin T., Wierenga K. J., Isidor B., Piton A., Faivre L., Garde A., Moutton S., Tran-Mau-Them F., Denomme-Pichon A. -S., Coubes C., Larson A., Esser M. J., Appendino J. P., Al-Hertani W., Gamboni B., Mampel A., Mayorga L., Orsini A., Bonuccelli A., Suppiej A., Van-Gils J., Vogt J., Damioli S., Giordano L., Moortgat S., Wirrell E., Hicks S., Kini U., Noble N., Stewart H., Asakar S., Cohen J. S., Naidu S. R., Collier A., Brilstra E. H., Li M. H., Brew C., Bigoni S., Ognibene D., Ballardini E., Ruivenkamp C., Faggioli R., Afenjar A., Rodriguez D., Bick D., Segal D., Coman D., Gunning B., Devinsky O., Demmer L. A., Grebe T., Pruna D., Cursio I., Greenhalgh L., Graziano C., Singh R. R., Cantalupo G., Willems M., Yoganathan S., Goes F., Leventer R. J., Colavito D., Olivotto S., Scelsa B., Andrade A. V., Ratke K., Tokarz F., Khan A. S., Ormieres C., Benko W., Keough K., Keros S., Hussain S., Franques A., Varsalone F., Gronborg S., Mignot C., Heron D., Nava C., Isapof A., Borlot F., Whitney R., Ronan A., Foulds N., Somorai M., Brandsema J., Helbig K. L., Helbig I., Ortiz-Gonzalez X. R., Dubbs H., Vitobello A., Anderson M., Spadafore D., Hunt D., Moller R. S., Rubboli G.
المساهمون: Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. -S., Coubes, C., Larson, A., Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Goes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Gronborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-Gonzalez, X. R., Dubbs, H., Vitobello, A.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34790866; info:eu-repo/semantics/altIdentifier/wos/WOS:000728252200016; volume:7; issue:6; firstpage:e613-1; lastpage:e613-14; numberofpages:14; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11392/2475339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121913018; https://ng.neurology.org/content/7/6/e613Test
الإتاحة: https://doi.org/10.1212/NXG.0000000000000613Test
https://hdl.handle.net/11392/2475339Test
https://ng.neurology.org/content/7/6/e613Test -
6دورية أكاديمية
المؤلفون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H. A., Cordelli D. M.
المساهمون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H.A., Cordelli D.M.
مصطلحات موضوعية: EBF3, Magnetic resonance imaging (MRI), Neurology, Neuroradiology, R(10), R10, Ring chromosome 10, ZMYND11, Brain, Cell Cycle Protein, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 10, Co-Repressor Protein, DNA-Binding Protein, Developmental Disabilitie, Female, Intellectual Disability, Ring Chromosome, Syndrome, Transcription Factor, Phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34680908; info:eu-repo/semantics/altIdentifier/wos/WOS:000717083400001; volume:12; issue:10; firstpage:1513; lastpage:1513; numberofpages:10; journal:GENES; http://hdl.handle.net/11585/857161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116052418; https://www.mdpi.com/2073-4425/12/10/1513/htmTest
الإتاحة: https://doi.org/10.3390/genes12101513Test
http://hdl.handle.net/11585/857161Test
https://www.mdpi.com/2073-4425/12/10/1513/htmTest -
7دورية أكاديمية
المؤلفون: Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E.
المساهمون: Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, Bonora E.
مصطلحات موضوعية: Autism spectrum disorder, Genetic, Neurobiology, CACNB2 mutation, Whole exome sequencing
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32506348; info:eu-repo/semantics/altIdentifier/wos/WOS:000538667400001; volume:51; firstpage:377; lastpage:381; numberofpages:5; journal:JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS; https://hdl.handle.net/11585/776412Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085963183; https://link.springer.com/article/10.1007/s10803-020-04551-yTest
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8دورية أكاديمية
المؤلفون: Comino S., Galasso A., Graziano C.
المساهمون: Comino, S., Galasso, A., Graziano, C.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000546731900001; volume:68; issue:2; firstpage:226; lastpage:269; numberofpages:44; journal:JOURNAL OF INDUSTRIAL ECONOMICS; http://hdl.handle.net/11390/1189005Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087656413
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9دورية أكاديمية
المؤلفون: Patriti A., Baiocchi G. L., Catena F., Marini P., Catarci M., Beatrice D. V., Massimo S. P. N., Walter S., Mario S., Roberto P., Fortunato A. M., Marco S., Antonio G., Dario M., Andrea R., Stefano B., Giuseppe C., Alessandro C., Felice B., Amilcare P., Graziano L., Stefano D. L., Silvio T., Amedeo E., Raffaele B., Michela B., Andrea D. L., Andrea G., Stefano S., Ferdinando A., Vincenzo B., Paolo U., Vincenzo S., Augusto V., Moreno C., Marco C., Matteo A., Antonio S., Giuliano S., Pietro C., Alessandro S., Graziano P., Pasquale C., Giuseppe S. M., Alberto B., Antonino T., Eugenio C., Alessandro F., Michele P., Nicolo D. M., Giampaolo C., Daniele C., Lucio T., Nereo V., Claudio R., Mauro S., Alberto K., Roberto V., Domenico R., Piero B., Nicola C., Guglielmo M., Maurizio C., Giovanni C., Gianfausto I., Denise G., Graziano C., Pierpaolo B., Mario I. S.
المساهمون: Patriti, A., Baiocchi, G. L., Catena, F., Marini, P., Catarci, M., Beatrice, D. V., Massimo, S. P. N., Walter, S., Mario, S., Roberto, P., Fortunato, A. M., Marco, S., Antonio, G., Dario, M., Andrea, R., Stefano, B., Giuseppe, C., Alessandro, C., Felice, B., Amilcare, P., Graziano, L., Stefano, D. L., Silvio, T., Amedeo, E., Raffaele, B., Michela, B., Andrea, D. L., Andrea, G., Stefano, S., Ferdinando, A., Vincenzo, B., Paolo, U., Vincenzo, S., Augusto, V., Moreno, C., Marco, C., Matteo, A., Antonio, S., Giuliano, S., Pietro, C., Alessandro, S., Graziano, P., Pasquale, C., Giuseppe, S. M., Alberto, B., Antonino, T., Eugenio, C., Alessandro, F., Michele, P., Nicolo, D. M., Giampaolo, C., Daniele, C., Lucio, T., Vettoretto, Nereo, Claudio, R., Mauro, S., Alberto, K., Roberto, V., Domenico, R., Piero, B., Nicola, C., Guglielmo, M., Maurizio, C., Giovanni, C., Gianfausto, I., Denise, G., Graziano, C., Pierpaolo, B., Mario, I. S.
مصطلحات موضوعية: Coronaviru, COVID-19, Emergency surgery, Epidemic, Laparoscopy, Management, Pandemic, Resource, Surgery, Betacoronaviru, Coronavirus Infection, Disease Transmission, Infectiou, Emergencie, General Surgery, Hospital, Human, Infection Control, Intensive Care Unit, Italy, Pneumonia, Viral, Professional Practice, Surveys and Questionnaires
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32448333; info:eu-repo/semantics/altIdentifier/wos/WOS:000537716900001; volume:15; issue:1; firstpage:36; journal:WORLD JOURNAL OF EMERGENCY SURGERY; http://hdl.handle.net/11379/531921Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085378903
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10دورية أكاديمية
المؤلفون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B. B., Wenzel A., Tory K., Haeffner K., Wolf M. T. F., Bleyer M. E., Sayer J. A., Ong A. C. M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R. M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L. R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A. J.
المساهمون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B.B., Wenzel A., Tory K., Haeffner K., Wolf M.T.F., Bleyer M.E., Sayer J.A., Ong A.C.M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R.M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L.R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A.J.
مصطلحات موضوعية: autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32750457; info:eu-repo/semantics/altIdentifier/wos/WOS:000596506000030; volume:98; issue:6; firstpage:1589; lastpage:1604; numberofpages:16; journal:KIDNEY INTERNATIONAL; https://hdl.handle.net/11585/963228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test; https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract
الإتاحة: https://doi.org/10.1016/j.kint.2020.06.041Test
https://hdl.handle.net/11585/963228Test
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test
https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract
