المؤلفون: Vassallo, Alberto, Modi, Alessandra, Quagliariello, Andrea, Bacci, Giovanni, Faddetta, Teresa, Gallo, Michele, Provenzano, Aldesia, La Barbera, Andrea, Lombardo, Giovanna, Maggini, Valentina, Firenzuoli, Fabio, Zaccaroni, Marco, Gallo, Giuseppe, Caramelli, David, Aleo Nero, Carla, Baldi, Franco, Fani, Renato, Palumbo Piccionello, Antonio, Pucciarelli, Sandra, Puglia, Anna Maria, Sineo, Luca

المساهمون: Vassallo, Alberto, Modi, Alessandra, Quagliariello, Andrea, Bacci, Giovanni, Faddetta, Teresa, Gallo, Michele, Provenzano, Aldesia, La Barbera, Andrea, Lombardo, Giovanna, Maggini, Valentina, Firenzuoli, Fabio, Zaccaroni, Marco, Gallo, Giuseppe, Caramelli, David, Aleo Nero, Carla, Baldi, Franco, Fani, Renato, Palumbo Piccionello, Antonio, Pucciarelli, Sandra, Puglia, Anna Maria, Sineo, Luca

مصطلحات موضوعية: Nocardioides, Palermo, Streptomyces, aureothin, bacterial spores, paleomicrobiology, Settore BIO/08 - Antropologia, Settore BIO/03 - Botanica Ambientale E Applicata, Settore BIO/18 - Genetica, Settore BIO/19 - Microbiologia Generale, Settore CHIM/06 - Chimica Organica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37071008; info:eu-repo/semantics/altIdentifier/wos/WOS:000971377300001; firstpage:1; lastpage:15; numberofpages:15; journal:MICROBIOLOGY SPECTRUM; https://hdl.handle.net/10447/587435Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163525551

الإتاحة: https://doi.org/10.1128/spectrum.04374-22Test
https://hdl.handle.net/10447/587435Test

المؤلفون: Mammi, Alessia, Geroldi, Alessandro, Patrone, Serena, Gotta, Fabio, Origone, Paola, Gaudio, Andrea, La Barbera, Andrea, Sanguineri, Francesca, Ponti, Clarissa, Iacomino, Michele, Traverso, Monica, Ferlazzo, Edoardo, Schenone, Angelo, Pascarella, Angelo, Marsico, Oreste, Mandich, Paola, Bellone, Emilia

المصدر: Journal of the Peripheral Nervous System; Jun2024, Vol. 29 Issue 2, p279-285, 7p

مصطلحات موضوعية: PERIPHERAL neuropathy diagnosis, PERIPHERAL neuropathy, BIOPSY, TIBIAL nerve, GENOMICS, PANCREATIC diseases, SENSORINEURAL hearing loss, NEUROPHYSIOLOGY, ELECTROENCEPHALOGRAPHY, AUDIOMETRY, GENEALOGY, AGE factors in disease, ITALIANS, GENETIC variation, BIOINFORMATICS, EPILEPSY, ENDOCRINE diseases, GENETIC mutation, GENETIC techniques, SEQUENCE analysis, PHENOTYPES, NERVE conduction studies

المؤلفون: Geroldi, Alessandro, Ponti, Clarissa, Mammi, Alessia, Patrone, Serena, Gotta, Fabio, Trevisan, Lucia, Sanguineri, Francesca, Origone, Paola, Gaudio, Andrea, La Barbera, Andrea, Cataldi, Matteo, Gemelli, Chiara, Massucco, Sara, Schenone, Angelo, Lanteri, Paola, Fiorillo, Chiara, Grandis, Marina, Mandich, Paola, Bellone, Emilia

المساهمون: Geroldi, Alessandro, Ponti, Clarissa, Mammi, Alessia, Patrone, Serena, Gotta, Fabio, Trevisan, Lucia, Sanguineri, Francesca, Origone, Paola, Gaudio, Andrea, La Barbera, Andrea, Cataldi, Matteo, Gemelli, Chiara, Massucco, Sara, Schenone, Angelo, Lanteri, Paola, Fiorillo, Chiara, Grandis, Marina, Mandich, Paola, Bellone, Emilia

مصطلحات موضوعية: CMT, Childhood, Diagnostic yield, Early onset, Peripheral neuropathies

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38428336; volume:154; firstpage:1; lastpage:3; numberofpages:3; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/11567/1170268Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186529977

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2024.02.002Test
https://hdl.handle.net/11567/1170268Test

المؤلفون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

المساهمون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

مصطلحات موضوعية: X-linked disease, non-invasive whole exome sequencing, fetal cell-free DNA, escapee gene, X-inactivation, Mullegama–Klein–Martinez syndrome (MKMS), STAG2 gene

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35887945; info:eu-repo/semantics/altIdentifier/wos/WOS:000831365000001; volume:11; issue:14; numberofpages:10; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/11584/342080Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136356779; https://www.mdpi.com/2077-0383/11/14/4182Test

الإتاحة: https://doi.org/10.3390/jcm11144182Test
http://hdl.handle.net/11584/342080Test
https://www.mdpi.com/2077-0383/11/14/4182Test

المؤلفون: Geroldi, Alessandro, Mammi, Alessia, Gaudio, Andrea, Patrone, Serena, La Barbera, Andrea, Origone, Paola, Ponti, Clarissa, Sanguineri, Francesca, Massucco, Sara, Marinelli, Lucio, Grandis, Marina, Schenone, Angelo, Mandich, Paola, Bellone, Emilia, Gotta, Fabio

المصدر: Journal of Medical Genetics ; page jmg-2024-110019 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2024-110019Test

المؤلفون: Brizola, Evelise, Gnoli, Maria, Tremosini, Morena, Nucci, Paolo, Bargiacchi, Sara, La Barbera, Andrea, Giglio, Sabrina, Sangiorgi, Luca

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/31006Test

الإتاحة: https://doi.org/10.1002/mgg3.1353Test
https://www.openaccessrepository.it/record/31006Test

المؤلفون: Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

المساهمون: Università degli Studi di Firenze

المصدر: Human Genetics ; volume 140, issue 4, page 625-647 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-020-02231-6Test

المؤلفون: Ricci, Silvia, Lodi, Lorenzo, Serranti, Daniele, Moroni, Marco, Belli, Gilda, Mancano, Giorgia, La Barbera, Andrea, Forzano, Giulia, Mangone, Giusi, Indolfi, Giuseppe, Azzari, Chiara

المصدر: Frontiers in Immunology ; volume 10 ; ISSN 1664-3224

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.3389/fimmu.2019.01955Test

المؤلفون: Provenzano, Aldesia, Chetta, Massimiliano, De Filpo, Giuseppina, Cantini, Giulia, La Barbera, Andrea, Nesi, Gabriella, Santi, Raffaella, Martinelli, Serena, Rapizzi, Elena, Luconi, Michaela, Maggi, Mario, Mannelli, Massimo, Ercolino, Tonino, Canu, Letizia

المصدر: Medicina (1010660X); Aug2022, Vol. 58 Issue 8, p1113-1113, 14p

مصطلحات موضوعية: PARAGANGLIOMA, CHRONIC myeloid leukemia, POLYCYTHEMIA, DNA copy number variations, PHEOCHROMOCYTOMA, DNA sequencing

المؤلفون: Provenzano, Aldesia¹ (AUTHOR) aldesia.provenzano@unifi.it, La Barbera, Andrea¹ (AUTHOR), Scagnet, Mirko² (AUTHOR), Pagliazzi, Angelica¹ (AUTHOR), Traficante, Giovanna³ (AUTHOR), Pantaleo, Marilena³ (AUTHOR), Tiberi, Lucia¹ (AUTHOR), Vergani, Debora³ (AUTHOR), Kurtas, Nehir Edibe³ (AUTHOR), Guarducci, Silvia³ (AUTHOR), Bargiacchi, Sara³ (AUTHOR), Forzano, Giulia¹ (AUTHOR), Artuso, Rosangela³ (AUTHOR), Palazzo, Viviana³ (AUTHOR), Kura, Ada⁴ (AUTHOR), Giordano, Flavio² (AUTHOR), di Feo, Daniele⁵ (AUTHOR), Mortilla, Marzia⁵ (AUTHOR), De Filippi, Claudio⁵ (AUTHOR), Mattei, Gianluca⁶ (AUTHOR)

المصدر: Human Genetics. Apr2021, Vol. 140 Issue 4, p625-647. 23p.

مصطلحات موضوعية: *ARNOLD-Chiari deformity, *GENES, *MAGNETIC resonance imaging, *HISTONES, *ENCEPHALOCELE, *NEURAL tube defects, *CHROMATIN