المؤلفون: Barzaghi, Federica, Visconti, Camilla, Pipitone, Giovanni Battista, Bondesan, Simone, Molli, Giulia, Giannelli, Stefania, Sartirana, Claudia, Lampasona, Vito, Bazzigaluppi, Elena, Brigatti, Cristina, Gervais, Adrian, Bastard, Paul, Din, Chiara Tassan, Molinari, Chiara, Piemonti, Lorenzo, Casanova, Jean-Laurent, Carrera, Paola, Casari, Giorgio, Aiuti, Alessandro

المساهمون: IRCCS San Raffaele Scientific Institute Milan, Italie, San Raffaele Telethon Institute for Gene Therapy Milan, Italy (SR-Tiget), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University Milan, Italie (UniSR), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Howard Hughes Medical Institute (HHMI), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020)

المصدر: ISSN: 0022-1899.

مصطلحات موضوعية: CCR5, COVID-19, TLR3, West-Nile Virus, anti-IFN autoantibodies, thymoma, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38976510; PUBMED: 38976510

الاتاحة: https://hal.science/hal-04815962
https://hal.science/hal-04815962v1/document
https://hal.science/hal-04815962v1/file/jiae321.pdf
https://doi.org/10.1093/infdis/jiae321

المؤلفون: Quarantani, Gioia, Sorgente, Anna, Alfano, Massimo, Pipitone, Giovanni Battista, Boeri, Luca, Pozzi, Edoardo, Belladelli, Federico, Pederzoli, Filippo, Ferrara, Anna Maria, Montorsi, Francesco, Moles, Anna, Carrera, Paola, Salonia, Andrea, Casari, Giorgio

المساهمون: Quarantani, Gioia, Sorgente, Anna, Alfano, Massimo, Pipitone, Giovanni Battista, Boeri, Luca, Pozzi, Edoardo, Belladelli, Federico, Pederzoli, Filippo, Ferrara, Anna Maria, Montorsi, Francesco, Moles, Anna, Carrera, Paola, Salonia, Andrea, Casari, Giorgio

Relation: info:eu-repo/semantics/altIdentifier/pmid/37540677; info:eu-repo/semantics/altIdentifier/wos/WOS:001043329800013; volume:18; issue:8; numberofpages:18; journal:PLOS ONE; https://hdl.handle.net/20.500.11768/150983; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0288336

الاتاحة: https://hdl.handle.net/20.500.11768/150983
https://doi.org/10.1371/journal.pone.0288336
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0288336

المؤلفون: Rimini, Margherita, Presi, Silvia, Pipitone, Giovanni Battista, Russo Raucci, Annalisa, Ratti, Francesca, Della Corte, Angelo, Pedica, Federica, Vanella, Giuseppe, Tonon, Giovanni, Burgio, Valentina, Vitiello, Francesco, Rossari, Federico, Amadeo, Elisabeth, Maria Giulia, Cangi, Pecciarini, Lorenza, Arcidiacono, Paolo Giorgio, Falcinelli, Francesca, Cascinu, Stefano, De Cobelli, Francesco, Aldrighetti, Luca, Patricelli, Maria Grazia, Carrera, Paola, Casadei-Gardini, Andrea

المساهمون: Rimini, Margherita, Presi, Silvia, Pipitone, Giovanni Battista, Russo Raucci, Annalisa, Ratti, Francesca, Della Corte, Angelo, Pedica, Federica, Vanella, Giuseppe, Tonon, Giovanni, Burgio, Valentina, Vitiello, Francesco, Rossari, Federico, Amadeo, Elisabeth, Maria Giulia, Cangi, Pecciarini, Lorenza, Arcidiacono, Paolo Giorgio, Falcinelli, Francesca, Cascinu, Stefano, De Cobelli, Francesco, Aldrighetti, Luca, Patricelli, Maria Grazia, Carrera, Paola, Casadei-Gardini, Andrea

مصطلحات موضوعية: Biliary tract cancer, Genetic predisposition, familiar predisposition, genetic syndrome, germline test

Relation: info:eu-repo/semantics/altIdentifier/pmid/38584510; info:eu-repo/semantics/altIdentifier/wos/WOS:001199173100001; volume:18; issue:4-5; firstpage:141; lastpage:146; numberofpages:6; journal:EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY; https://hdl.handle.net/20.500.11768/159337

الاتاحة: https://hdl.handle.net/20.500.11768/159337
https://doi.org/10.1080/17474124.2024.2337000
https://www.tandfonline.com/doi/full/10.1080/17474124.2024.2337000?scroll=top&needAccess=true

المؤلفون: Cipriani, Silvia, Guerrero‐Valero, Marta, Tozza, Stefano, Zhao, Edward, Vollmer, Veith, Beijer, Danique, Danzi, Matt, Rivellini, Cristina, Lazarevic, Dejan, Pipitone, Giovanni Battista, Grosz, Bianca Rose, Lamperti, Costanza, Marzoli, Stefania Bianchi, Carrera, Paola, Devoto, Marcella, Pisciotta, Chiara, Pareyson, Davide, Kennerson, Marina, Previtali, Stefano C., Zuchner, Stephan, Scherer, Steven S., Manganelli, Fiore, Bähler, Martin, Bolino, Alessandra

المساهمون: Ministero della Salute, Regione Lombardia

المصدر: European Journal of Neurology ; volume 30, issue 2, page 511-526 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.15601
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15601
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ene.15601

المؤلفون: Riva, Nilo, Pozzi, Laura, Russo, Tommaso, Pipitone, Giovanni Battista, Schito, Paride, Domi, Teuta, Agosta, Federica, Quattrini, Angelo, Carrera, Paola, Filippi, Massimo

المصدر: Frontiers in Neuroscience ; volume 16 ; ISSN 1662-453X

الاتاحة: http://dx.doi.org/10.3389/fnins.2022.833051
https://www.frontiersin.org/articles/10.3389/fnins.2022.833051/full

المؤلفون: Faienza, Sipontina, Bianca, Pierpaolo, Catania, Martina, Stefano, Gianfranco D I, Pipitone, Giovanni Battista, Rowe, Isaline, Larcher, Alessandro, Salonia, Andrea, Alibrandi, Maria Teresa Sciarrone, Carrera, Paola, Boletta, Alessandra, Franco, Irene

المصدر: Nephrology Dialysis Transplantation ; volume 39, issue Supplement_1 ; ISSN 0931-0509 1460-2385

الاتاحة: http://dx.doi.org/10.1093/ndt/gfae069.241
https://academic.oup.com/ndt/article-pdf/39/Supplement_1/gfae069-0241-2048/57792595/gfae069-0241-2048.pdf

المؤلفون: Margaria, Jean Piero, Pipitone, Giovanni Battista, Larcher, Alessandro, Faienza, Sipontina, Rowe, Isaline, Corea, Francesca, DI Stefano, Gianfranco, Capitanio, Umberto, Carrera, Paola, Salonia, Andrea, Boletta, Alessandra, Franco, Irene

المصدر: Nephrology Dialysis Transplantation ; volume 39, issue Supplement_1 ; ISSN 0931-0509 1460-2385

الاتاحة: http://dx.doi.org/10.1093/ndt/gfae069.122
https://academic.oup.com/ndt/article-pdf/39/Supplement_1/gfae069-0122-1193/57791002/gfae069-0122-1193.pdf

المؤلفون: Magliacane, Gilda, Brunetto, Emanuela, Calzavara, Silvia, Bergamini, Alice, Pipitone, Giovanni Battista, Marra, Giovanna, Redegalli, Miriam, Grassini, Greta, Rabaiotti, Emanuela, Taccagni, Gianluca, Pecciarini, Lorenza, Carrera, Paola, Mangili, Giorgia, Doglioni, Claudio, Cangi, Maria Giulia

المساهمون: Magliacane, Gilda, Brunetto, Emanuela, Calzavara, Silvia, Bergamini, Alice, Pipitone, Giovanni Battista, Marra, Giovanna, Redegalli, Miriam, Grassini, Greta, Rabaiotti, Emanuela, Taccagni, Gianluca, Pecciarini, Lorenza, Carrera, Paola, Mangili, Giorgia, Doglioni, Claudio, Cangi, Maria Giulia

مصطلحات موضوعية: BRCA, HRD, HRR, NGS, PARPi, molecular testing, ovarian cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/36612041; info:eu-repo/semantics/altIdentifier/wos/WOS:000908981700001; volume:15; issue:1; journal:CANCERS; https://hdl.handle.net/20.500.11768/135441

الاتاحة: https://hdl.handle.net/20.500.11768/135441
https://doi.org/10.3390/cancers15010043

المؤلفون: Previtali, Stefano C., Zhao, Edward, Lazarevic, Dejan, Pipitone, Giovanni Battista, Fabrizi, Gian Maria, Manganelli, Fiore, Mazzeo, Anna, Pareyson, Davide, Schenone, Angelo, Taroni, Franco, Vita, Giuseppe, Bellone, Emilia, Ferrarini, Moreno, Garibaldi, Matteo, Magri, Stefania, Padua, Luca, Pennisi, Elena, Pisciotta, Chiara, Riva, Nilo, Scaioli, Vidmer, Scarlato, Marina, Tozza, Stefano, Geroldi, Alessandro, Jordanova, Albena, Ferrari, Maurizio, Molineris, Ivan, Reilly, Mary M., Comi, Giancarlo, Carrera, Paola, Devoto, Marcella, Bolino, Alessandra

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/90/10/1171; http://dx.doi.org/10.1136/jnnp-2019-320717

الاتاحة: http://jnnp.bmj.com/cgi/content/short/90/10/1171
https://doi.org/10.1136/jnnp-2019-320717

المؤلفون: Re, Chiara, Belladelli, Federico, Cei, Francesco, Salerno, Lucia, Cusano, Sara, Iannace, Floriana, Pipitone, Giovanni Battista, Carrera, Paola, Raucci, Annalisa Russo, Patricelli, Maria Grazia, Falini, Andrea, De Cobelli, Francesco, Mortini, Pietro, Bandello, Francesco, Lattanzio, Rosangela, Falconi, Massimo, Partelli, Stefano, Necchi, Andrea, Marandino, Laura, Franco, Irene, Rowe, Isaline, Montorsi, Francesco, Capitanio, Umberto, Larcher, Alessandro, Salonia, Andrea

المصدر: Journal of Urology ; volume 209, issue Supplement 4 ; ISSN 0022-5347 1527-3792

الاتاحة: http://dx.doi.org/10.1097/ju.0000000000003279.16
http://www.auajournals.org/doi/pdf/10.1097/JU.0000000000003279.16

المؤلفون: Mingarelli, Alessia¹ (AUTHOR), Pipitone, Giovanni Battista² (AUTHOR), Torini, Giacomo³ (AUTHOR), Patricelli, Maria Grazia² (AUTHOR), Totaro, Martina¹ (AUTHOR), Colonna, Clara¹ (AUTHOR), Carrera, Paola^2,3 (AUTHOR), Raviglione, Federico¹ (AUTHOR)

المصدر: Case Reports in Genetics. 9/30/2023, p1-5. 5p.

مصطلحات موضوعية: *PROXIMAL kidney tubules, *SLEEP interruptions, *SYNDROMES, *PHENOTYPES, *SLEEP disorders

المؤلفون: Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio

المساهمون: Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio

مصطلحات موضوعية: clinical practice, genetic testing, neurogenesis, next generation sequencing, sequencing approaches, variant interpretation

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000577108400011; volume:16; issue:3; firstpage:475; lastpage:481; journal:NEURAL REGENERATION RESEARCH; http://hdl.handle.net/20.500.11768/103737

الاتاحة: https://hdl.handle.net/20.500.11768/103737
https://doi.org/10.4103/1673-5374.293135

المؤلفون: Cipriani, Silvia, Guerrero‐Valero, Marta, Tozza, Stefano, Zhao, Edward, Vollmer, Veith, Beijer, Danique, Danzi, Matt, Rivellini, Cristina, Lazarevic, Dejan, Pipitone, Giovanni Battista, Grosz, Bianca Rose, Lamperti, Costanza, Marzoli, Stefania Bianchi, Carrera, Paola, Devoto, Marcella, Pisciotta, Chiara, Pareyson, Davide, Kennerson, Marina, Previtali, Stefano C., Zuchner, Stephan

المصدر: European Journal of Neurology; Feb2023, Vol. 30 Issue 2, p511-526, 16p

مصطلحات موضوعية: CENTRAL nervous system, CHARCOT-Marie-Tooth disease, PERIPHERAL nervous system, GENETIC variation, MOLECULAR motor proteins, OPTIC nerve injuries, OPTIC nerve diseases

المؤلفون: Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Battaglia Parodi, Maurizio, Ferrari, Maurizio, Carrera, Paola

المساهمون: Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Battaglia Parodi, Maurizio, Ferrari, Maurizio, Carrera, Paola

مصطلحات موضوعية: NGS, diagnostic yield, inherited retinal dystrophie, multigene panels

Relation: volume:29; issue:1; firstpage:15-25; journal:EJIFCC; http://hdl.handle.net/20.500.11768/85230

الاتاحة: https://hdl.handle.net/20.500.11768/85230

المؤلفون: Akbari, Arvand, Pipitone, Giovanni Battista, Anvar, Zahra, Jaafarinia, Mojtaba, Ferrari, Maurizio, Carrera, Paola, Totonchi, Mehdi

المساهمون: San Raffaele Hospital, Royan Institute

المصدر: Human Reproduction ; volume 34, issue 6, page 1155-1164 ; ISSN 0268-1161 1460-2350

الاتاحة: http://dx.doi.org/10.1093/humrep/dez048
http://academic.oup.com/humrep/advance-article-pdf/doi/10.1093/humrep/dez048/28695773/dez048.pdf
http://academic.oup.com/humrep/article-pdf/34/6/1155/28855431/dez048.pdf

المؤلفون: Scarlino, Stefania, Domi, Teuta, Pozzi, Laura, Romano, Alessandro, Pipitone, Giovanni Battista, Falzone, Yuri Matteo, Mosca, Lorena, Penco, Silvana, Lunetta, Christian, Sansone, Valeria, Tremolizzo, Lucio, Fazio, Raffaella, Agosta, Federica, Filippi, Massimo, Carrera, Paola, Riva, Nilo, Quattrini, Angelo

المصدر: International Journal of Molecular Sciences; May2020, Vol. 21 Issue 9, p3346-3346, 1p, 1 Diagram, 3 Charts, 1 Graph

مصطلحات موضوعية: AMYOTROPHIC lateral sclerosis, MOTOR neuron diseases, PERCUTANEOUS endoscopic gastrostomy, NEUROPATHY, GENES, DEGENERATION (Pathology)

المؤلفون: Paola Carrera, Giovanni Battista Pipitone, Maurizio Ferrari, Chiara Di Resta

المساهمون: Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio

المصدر: Neural Regeneration Research, Vol 16, Iss 3, Pp 475-481 (2021)
Neural Regeneration Research

مصطلحات موضوعية: next generation sequencing, medicine.diagnostic_test, Computer science, variant interpretation, Diagnostic test, Review, Computational biology, clinical practice, genetic testing, neurogenesis, sequencing approaches, DNA sequencing, lcsh:RC346-429, Clinical Practice, Developmental Neuroscience, medicine, Raw data, lcsh:Neurology. Diseases of the nervous system, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512e4b4036aa8e080087541fdf00925b
http://www.nrronline.org/article.asp?issn=1673-5374;year=2021;volume=16;issue=3;spage=475;epage=481;aulast=Di

المؤلفون: Di Resta, C., Spiga, I., Presi, S., Merella, S., Pipitone, G. B., Manitto, M. P., Querques, G., Parodi, M. B., Ferrari, M., Paola Carrera

المساهمون: Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Battaglia Parodi, Maurizio, Ferrari, Maurizio, Carrera, Paola

المصدر: Università Vita-Salute San Raffaele-IRIS
Scopus-Elsevier

مصطلحات موضوعية: NGS, diagnostic yield, multigene panels, inherited retinal dystrophie

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18a06789e612223d38e4f055209fc0fb
https://iris.unisr.it/handle/20.500.11768/85230