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1دورية أكاديمية
المؤلفون: Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone
المصدر: Journal of Clinical Medicine, Vol 13, Iss 4, p 1109 (2024)
مصطلحات موضوعية: DCC, mirror movements, ACC, dystonic postures, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Teresa Mattina, Orsetta Zuffardi
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: FBN1, ROBO2, chromothripsis, complex chromosome rearrangement, intellectual disability, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
مصطلحات موضوعية: autophagy, copy number variations (CNVs), RB1CC1, schizophrenia (SCZ), suicidality, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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5دورية أكاديمية
المؤلفون: Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
مصطلحات موضوعية: CISD2, Wolfram syndrome type 2, mRNA splicing, Non functional isoforms, Nonsense-mediated mRNA decay, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Edoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, Juha Paloneva, Teresa Mattina, Orsetta Zuffardi
المصدر: Frontiers in Immunology, Vol 10 (2019)
مصطلحات موضوعية: Nasu-Hakola disease (NHD), TREM2, TYROBP, NK cells, autoantibodies, microglia, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Immacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Barbara Eleni Rosato, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Achille Iolascon
المصدر: Frontiers in Physiology, Vol 10 (2019)
مصطلحات موضوعية: PIEZO1, lymphedema, red blood cell alterations, overhydration, stomatocytosis, spherocytosis, Physiology, QP1-981
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Simone Marini, Ivan Limongelli, Ettore Rizzo, Alberto Malovini, Edoardo Errichiello, Annalisa Vetro, Tan Da, Orsetta Zuffardi, Riccardo Bellazzi
المصدر: PLoS ONE, Vol 11, Iss 12, p e0164940 (2016)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Monica Gunetti, Simone Tomasi, Alessandro Giammò, Marina Boido, Deborah Rustichelli, Katia Mareschi, Edoardo Errichiello, Maurizio Parola, Ivana Ferrero, Franca Fagioli, Alessandro Vercelli, Roberto Carone
المصدر: PLoS ONE, Vol 7, Iss 9, p e45538 (2012)
وصف الملف: electronic resource
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10
المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
المصدر: The American Journal of Human Genetics. 110:681-690
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005