المؤلفون: Marzano F., Chiara M., Consiglio A., D'Amato G., Gentile M., Mirabelli V., Piane M., Savio C., Fabiani M., D'Elia D., Sbisa E., Scarano G., Lonardo F., Tullo A., Pesole G., Faienza M. F.

المساهمون: Marzano, F., Chiara, M., Consiglio, A., D'Amato, G., Gentile, M., Mirabelli, V., Piane, M., Savio, C., Fabiani, M., D'Elia, D., Sbisa, E., Scarano, G., Lonardo, F., Tullo, A., Pesole, G., Faienza, M. F.

مصطلحات موضوعية: majewski, mopdii, pathogenic variant, rna-seq

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37569667; info:eu-repo/semantics/altIdentifier/wos/WOS:001046337200001; volume:24; issue:15; firstpage:1; lastpage:14; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11573/1687957Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85167757242

الإتاحة: https://doi.org/10.3390/ijms241512291Test
https://hdl.handle.net/11573/1687957Test

المؤلفون: Bovone, G, Buta, F, Lonardo, F, Bagni, T, Bonura, M, Leboeuf, David, Hopkins, S.C, Boutboul, T, Ballarino, A, Senatore, C

المساهمون: Department of Quantum Matter Physics Geneva (DQMP), Université de Genève = University of Geneva (UNIGE), Laboratoire national des champs magnétiques intenses - Grenoble (LNCMI-G ), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), European Organization for Nuclear Research (CERN)

المصدر: ISSN: 0953-2048.

مصطلحات موضوعية: Nb3Sn, internal oxidation, multi-filamentary wire, [PHYS.PHYS.PHYS-ACC-PH]Physics [physics]/Physics [physics]/Accelerator Physics [physics.acc-ph]

العلاقة: hal-04181881; https://hal.science/hal-04181881Test; https://hal.science/hal-04181881/documentTest; https://hal.science/hal-04181881/file/Bovone_2023_Supercond._Sci._Technol._36_095018.pdfTest; INSPIRE: 2688206

الإتاحة: https://doi.org/10.1088/1361-6668/aced25Test
https://hal.science/hal-04181881Test
https://hal.science/hal-04181881/documentTest
https://hal.science/hal-04181881/file/Bovone_2023_Supercond._Sci._Technol._36_095018.pdfTest

المؤلفون: Lonardo, F., Bovone, G., Buta, F., Bonura, M., Bagni, Tommaso, Medina-Clavijo, B., Ballarino, A., Hopkins, S. C., Boutboul, T., Senatore, C.

المصدر: IEEE transactions on applied superconductivity (Print). 34(5)

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-523643Test

المؤلفون: Bovone, G., Buta, F., Lonardo, F., Bonura, M., Borca, C. N., Huthwelker, T., Hopkins, S. C., Ballarino, A., Boutboul, T., Senatore, C.

المساهمون: Swiss Accelerator Research and Technology, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, European Organization for Nuclear Research

المصدر: IEEE Transactions on Applied Superconductivity ; volume 34, issue 3, page 1-5 ; ISSN 1051-8223 1558-2515 2378-7074

مصطلحات موضوعية: Electrical and Electronic Engineering, Condensed Matter Physics, Electronic, Optical and Magnetic Materials

الإتاحة: https://doi.org/10.1109/tasc.2024.3354232Test
http://xplorestaging.ieee.org/ielx7/77/10339679/10400573.pdf?arnumber=10400573Test

المؤلفون: Lonardo, F., Bovone, G., Buta, F., Bonura, M., Bagni, T., Medina-Clavijo, B., Ballarino, A., Hopkins, S. C., Boutboul, T., Senatore, C.

المصدر: IEEE Transactions on Applied Superconductivity; August 2024, Vol. 34 Issue: 5 p1-5, 5p

المؤلفون: Bovone, G., Buta, F., Lonardo, F., Bonura, M., Borca, C. N., Huthwelker, T., Hopkins, S. C., Ballarino, A., Boutboul, T., Senatore, C.

المصدر: IEEE Transactions on Applied Superconductivity; 2024, Vol. 34 Issue: 3 p1-5, 5p

المؤلفون: Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G. N., Novara, F., Bonaglia, M. C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S., Zuffardi, O.

المساهمون: Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G. N., Novara, F., Bonaglia, M. C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S., Zuffardi, O.

مصطلحات موضوعية: Copy number variation, Whole Exome Sequencing (WES), Genetic diagnosi, Isodisomy, Loss of heterozygosity (LOH), Genetic, Genetics (clinical), Causative SNVs/InDel, Non-coding region, Array-CGH, Genes expression, Bbioinformatics pipelines

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28556904; info:eu-repo/semantics/altIdentifier/wos/WOS:000426255400012; volume:93; issue:3; firstpage:545; lastpage:556; numberofpages:12; journal:CLINICAL GENETICS; http://hdl.handle.net/11584/298153Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85029455419

الإتاحة: https://doi.org/10.1111/cge.13060Test
http://hdl.handle.net/11584/298153Test

المؤلفون: Jaarsveld, R.H. van, Reilly, J., Cornips, M.C., Hadders, M.A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S.A., Binsbergen, E. van, Boogaard, M.J. van den, Brischoux-Boucher, E., Caylor, R.C., Ciolfi, A., Essen, T.A. van, Fontana, P., Hopman, S., Iascone, M., Javier, M.M., Kamsteeg, E.J., Kerkhof, J., Kido, J., Kim, H.G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M.A., Lewis, M.E.S., Lichty, A., Mannens, M.M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R.P., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J.H., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C.A., Yosovich, K., Yuskaitis, C.J., Zampino, G., Sadikovic, B., Alders, M., Oegema, R.

المصدر: Genetics in Medicine, 25, 1, pp. 49-62

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290808/290808.pdfTest; https://repository.ubn.ru.nl/handle/2066/290808Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.006Test
https://repository.ubn.ru.nl//bitstream/handle/2066/290808/290808.pdfTest
https://repository.ubn.ru.nl/handle/2066/290808Test

المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.

المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260

مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest

المؤلفون: Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V.

المساهمون: Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, Cicalese, V.

المصدر: Journal of Public Health (Oxford, England)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2821a0f78a29e2e3dd1c380a076f81Test
https://doi.org/10.1093/pubmed/fdab137Test