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1دورية أكاديمية
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
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2دورية أكاديمية
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 -
3
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
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4دورية أكاديمية
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 -
5دورية
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
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6دورية
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
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7دورية أكاديمية
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
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8دورية أكاديمية
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 -
9دورية أكاديمية
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 -
10
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