المؤلفون: Benfaremo, D., Zaccone, V., Sistoni Pepparoni, M., Contegiacomo, S., Bigoni, S., Tana, C., Ferraioli, Y., Pacenti, N., Pantaleoni, A., Mea, D., Piga, M. A., Svegliati Baroni, S., Agarbati, S., Paolini, C., Mozzicafreddo, M., Spadoni, T., Fogante, M., Zuccatosta, L., Argalia, G., Moroncini, G.

المصدر: Scientific Abstracts

الإتاحة: https://doi.org/10.1136/annrheumdis-2024-eular.1839Test

المؤلفون: Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Klee, E.W., Mathie, A.

وصف الملف: application/pdf

العلاقة: https://westminsterresearch.westminster.ac.uk/download/6ab8997ba990bbd2442cda38f3812c0764f408cf1f321fe6fad70a05e8949fc2/7890053/s13073-022-01064-4.pdfTest; https://doi.org/10.1186/s13073-022-01064-4Test; Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Klee, E.W. and Mathie, A. 2022. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Medicine. 14 62. https://doi.org/10.1186/s13073-022-01064-4Test

الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
https://westminsterresearch.westminster.ac.uk/item/w9524/gain-and-loss-of-task3-channel-function-and-its-regulation-by-novel-variation-cause-kcnk9-imprinting-syndromeTest
https://westminsterresearch.westminster.ac.uk/download/6ab8997ba990bbd2442cda38f3812c0764f408cf1f321fe6fad70a05e8949fc2/7890053/s13073-022-01064-4.pdfTest

المؤلفون: Broly, M., Polevoda, B. V., Awayda, K. M., Tong, N., Lentini, J., Besnard, T., Deb, W., O'Rourke, D., Baptista, J., Ellard, S., Almannai, M., Hashem, M., Abdulwahab, F., Shamseldin, H., Al-Tala, S., Alkuraya, F. S., Leon, A., van Loon, R. L. E., Ferlini, A., Sanchini, M., Bigoni, S., Ciorba, A., van Bokhoven, H., Iqbal, Z., Al-Maawali, A., Al-Murshedi, F., Ganesh, A., Al-Mamari, W., Lim, S. C., Pais, L. S., Brown, N., Riazuddin, S., Bézieau, S., Fu, D., Isidor, B., Cogné, B., O'Connell, M. R.

مصطلحات موضوعية: N4-acetylcytidine, Nat10, RNA acetylation, Thumpd1, ac4C, developmental disorder, intellectual disability, tRNA biology, tRNA modifications

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00052-0; Am J Hum Genet. 2022 Feb 11:S0002-9297(22)00052-0. doi:10.1016/j.ajhg.2022.02.001.; https://rde.dspace-express.com/handle/11287/622458Test; American journal of human genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.001Test
https://rde.dspace-express.com/handle/11287/622458Test

المؤلفون: Aliberti, L., Gagliardi, I., Bigoni, S., Lupo, S., Caracciolo, S., Ferlini, A., Isidori, A. M., Zatelli, M. C., Ambrosio, M. R.

المساهمون: Open access funding provided by Università degli Studi di Ferrara within the CRUI-CARE Agreement.

المصدر: Journal of Community Genetics ; volume 13, issue 3, page 271-280 ; ISSN 1868-310X 1868-6001

مصطلحات موضوعية: Genetics (clinical), Public Health, Environmental and Occupational Health, Epidemiology

الإتاحة: https://doi.org/10.1007/s12687-022-00585-0Test

المؤلفون: Bigoni, S, Neri, M, Scotton, C, Farina, R, Sabatelli, P, Jiang, CY, Zhang, JG, Falzarano, MS, Rossi, R, Ognibene, D, Selvatici, R, Gualandi, F, Bosshardt, D, Perri, P, Campa, C, Brancati, F, Salvatore, M, De Stefano, MC, Taruscio, D, Trombelli, L, Fang, MY, Ferlini, A

المصدر: Frontiers in genetics. 9:723

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140042001Test

المؤلفون: Ciorba A., Corazzi V., Melegatti M., Morgan A., Pelliccione G., Girotto G., Bigoni S.

المساهمون: Ciorba, A., Corazzi, V., Melegatti, M., Morgan, A., Pelliccione, G., Girotto, G., Bigoni, S.

مصطلحات موضوعية: Non-syndromic hearing lo, Sensorineural hearing loss COL11A1 gene mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33605226; info:eu-repo/semantics/altIdentifier/wos/WOS:000620339200014; volume:17; issue:1; firstpage:81; lastpage:83; numberofpages:3; journal:THE JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY; http://hdl.handle.net/11368/2988543Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100902043; https://www.advancedotology.org/en/non-syndromic-sensorineural-prelingual-and-postlingual-hearing-loss-due-to-col11a1-gene-mutation-131588Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901426Test/

الإتاحة: https://doi.org/10.5152/iao.2020.8179Test
http://hdl.handle.net/11368/2988543Test
https://www.advancedotology.org/en/non-syndromic-sensorineural-prelingual-and-postlingual-hearing-loss-due-to-col11a1-gene-mutation-131588Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901426Test/

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

الإتاحة: https://doi.org/10.1002/gcc.22997Test
https://hdl.handle.net/11573/1670079Test

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

المؤلفون: Bigoni S., Tagliaferri M. L. V., Tamascelli D., Strangio S., Bez R., Organtini P., Ferrari G., Prati E.

المساهمون: Bigoni, S., Tagliaferri, M. L. V., Tamascelli, D., Strangio, S., Bez, R., Organtini, P., Ferrari, G., Prati, E.

مصطلحات موضوعية: single atom transistor, electronic noise, single phonon, silicon quantum dot

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000590708500001; volume:13; issue:12; firstpage:1; lastpage:5; numberofpages:5; journal:APPLIED PHYSICS EXPRESS; http://hdl.handle.net/11311/1167149Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097191577

الإتاحة: https://doi.org/10.35848/1882-0786/abc7cfTest
http://hdl.handle.net/11311/1167149Test

المؤلفون: Rossi M., Chatenoud L., Gona F., Sala I., Nattino G., D'Antonio A., Castelli D., Itri T., Morelli P., Bigoni S., Aldieri C., Martegani R., Grossi P. A., Del Curto C., Piconi S., Rimoldi S. G., Brambilla P., Bonfanti P., van Hauwermeiren E., Puoti M., Gattuso G., Cerri C., Raviglione M. C., Cirillo D. M., Bandera A., Gori A., Battaglia S., Lorenzin G., Cavallero A., Casana M., Pocaterra D., Cona A., D'Arminio Monforte A., Brigante G., Carducci A., Dalla Gasperina D., Rovelli C., Moro M., Scarpellini P., Rizzardini G., Pan A., Zoncada A., Franzetti M., Pandolfo A., Castelli F., Pollastri E., Travi G., Vismara C. S., Garilli S., Piazza M., Regazzetti A., Arghittu M., Colombo R. M., Olivieri P., Petri F., Averara F., Vailati F.

المساهمون: M. Rossi, L. Chatenoud, F. Gona, I. Sala, G. Nattino, A. D'Antonio, D. Castelli, T. Itri, P. Morelli, S. Bigoni, C. Aldieri, R. Martegani, P.A. Grossi, C. Del Curto, S. Piconi, S.G. Rimoldi, P. Brambilla, P. Bonfanti, E. van Hauwermeiren, M. Puoti, G. Gattuso, C. Cerri, M.C. Raviglione, D.M. Cirillo, A. Bandera, A. Gori, S. Battaglia, G. Lorenzin, A. Cavallero, M. Casana, D. Pocaterra, A. Cona, A. D'Arminio Monforte, G. Brigante, A. Carducci, D. Dalla Gasperina, C. Rovelli, M. Moro, P. Scarpellini, G. Rizzardini, A. Pan, A. Zoncada, M. Franzetti, A. Pandolfo, F. Castelli, E. Pollastri, G. Travi, C.S. Vismara, S. Garilli, M. Piazza, A. Regazzetti, M. Arghittu, R.M. Colombo, P. Olivieri, F. Petri, F. Averara, F. Vailati

مصطلحات موضوعية: CRE, Carbapenem resistance, Enterobacteriaceae, Italy, KPC-Kp, Klebsiella pneumoniae, antimicrobial resistance, bacteria, healthcare-associated infection, mortality rate, Anti-Bacterial Agent, Bacterial Protein, Human, beta-Lactamase, Carbapenem-Resistant Enterobacteriaceae, Klebsiella Infections, Settore MED/17 - Malattie Infettive

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33900910; info:eu-repo/semantics/altIdentifier/wos/WOS:000650121700019; volume:27; issue:5; firstpage:1416; lastpage:1426; numberofpages:11; journal:EMERGING INFECTIOUS DISEASES; http://hdl.handle.net/2434/899789Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105297320

الإتاحة: https://doi.org/10.3201/eid2705.203662Test
http://hdl.handle.net/2434/899789Test