نتائج البحث - "Salviati, Alessandro"

1

دورية أكاديمية

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

المؤلفون: Grosso, Valentina, Marcolungo, Luca, Maestri, Simone, Alfano, Massimiliano, Lavezzari, Denise, Iadarola, Barbara, Salviati, Alessandro, Mariotti, Barbara, Botta, Annalisa, D'Apice, Maria Rosaria, Novelli, Giuseppe, Delledonne, Massimo, Rossato, Marzia

المساهمون: Grosso, V, Marcolungo, L, Maestri, S, Alfano, M, Lavezzari, D, Iadarola, B, Salviati, A, Mariotti, B, Botta, A, D'Apice, Mr, Novelli, G, Delledonne, M, Rossato, M

مصطلحات موضوعية: long fragment enrichment, indirect sequence capture, repeat expansion, single nucleotide variant, FMR1, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34646309; info:eu-repo/semantics/altIdentifier/wos/WOS:000705469700001; volume:12; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2108/311731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116889067; https://www.frontiersin.org/articles/10.3389/fgene.2021.743230/full#h10Test

الإتاحة: https://doi.org/10.3389/fgene.2021.743230Test
https://hdl.handle.net/2108/311731Test

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2

دورية أكاديمية

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291–1329 CE) indicates the first known case of late-onset Pompe disease

المؤلفون: Iadarola, Barbara, Lavezzari, Denise, Modi, Alessandra, Degli Esposti, Chiara, Beltrami, Cristina, Rossato, Marzia, Zaro, Valentina, Napione, Ettore, Latella, Leonardo, Lari, Martina, Caramelli, David, Salviati, Alessandro, Delledonne, Massimo

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-021-00559-1Test
https://www.nature.com/articles/s41598-021-00559-1.pdfTest
https://www.nature.com/articles/s41598-021-00559-1Test

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3

دورية أكاديمية

Research activity and capability in the European reference network MetabERN

المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn

المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....

العلاقة: https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest

الإتاحة: https://doi.org/10.1186/s13023-019-1091-8Test
https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31142374Test

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4

دورية أكاديمية

Research activity and capability in the European reference network MetabERN

المؤلفون: Heard, Jean Michel, Bellettato, Cinzia, Van Lingen, Corine, Scarpa, Maurizio, Debray, François Guillaume, Nassogne, Marie Cécile, Van Coster, Rudy, De Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, De Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo Dionisi, Di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, Van Der Ploeg, Ans, Rubio-Gozalbo, Maria Estela, Van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata

المساهمون: Metabole ziekten patientenzorg

مصطلحات موضوعية: Europe, Humans, Interdisciplinary Research/methods, Quality of Life, Surveys and Questionnaires, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/391984Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/391984Test

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النص الكامل

5

دورية أكاديمية

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

المساهمون: EC | Horizon 2020 Framework Programme

المصدر: Scientific Reports ; volume 9, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-019-53995-5Test
https://www.nature.com/articles/s41598-019-53995-5.pdfTest
https://www.nature.com/articles/s41598-019-53995-5Test

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6

دورية أكاديمية

Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis

المؤلفون: Marangi, Antonio, Tagliapietra, Matteo, Vicenzi, Virginia, Pasquin, Isabella, Salviati, Alessandro

المصدر: Neurology ; volume 91, issue 2 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.0000000000005775Test

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7

دورية أكاديمية

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease

المساهمون: Concolino, Daniela, Degennaro, Emilia, Parini, Rossella, Antuzzi, Daniela, Bembi, Bruno, Benso, Andrea, Carraro, Gianni, Chimenti, Cristina, Colla, Loredana, Cuonzo, Maria Teresa, Del Rosso, Goffredo, Diomedi, Marina, Feliciani, Claudio, Feriozzi, Sandro, Ficcadenti, Anna, Frustaci, Andrea, Gnarra, Maria, Maccarone, Margherita, Mancuso, Michelangelo, Matucci, Andrea, Mignani, Renzo, Musumeci, Beatrice, Nencini, Patrizia, Piga, Stefania, Pisani, Antonio, Re, Federica, Salviati, Alessandro, Spada, Marco, Vultaggio, Alessandra, Zachara, Elisabetta, Zedde, Maria Luisa, Zoli, Pier Giorgio

مصطلحات موضوعية: Diagnosi, Fabry disease, Management, Treatment, Disease Management, Disease Progression, Electrocardiography, Ambulatory, Female, Genetic Diseases, X-Linked, Human, Male, Practice Patterns, Physicians', Delphi Technique, Enzyme Replacement Therapy, Internal Medicine

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25123424; info:eu-repo/semantics/altIdentifier/wos/WOS:000343807000018; volume:25; issue:8; firstpage:751; lastpage:756; numberofpages:6; journal:EUROPEAN JOURNAL OF INTERNAL MEDICINE; http://hdl.handle.net/2318/1640866Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908209301; www.elsevier.com/locate/ejim

الإتاحة: https://doi.org/10.1016/j.ejim.2014.07.009Test
http://hdl.handle.net/2318/1640866Test

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