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1دورية 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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2دورية أكاديمية
المؤلفون: Matteo Breno, Marina Noris, Nadia Rubis, Aneliya Ilieva Parvanova, Davide Martinetti, Sara Gamba, Lucia Liguori, Caterina Mele, Rossella Piras, Silvia Orisio, Elisabetta Valoti, Marta Alberti, Olimpia Diadei, Elena Bresin, Miriam Rigoldi, Silvia Prandini, Tiziano Gamba, Nadia Stucchi, Fabiola Carrara, Erica Daina, Ariela Benigni, Giuseppe Remuzzi
المصدر: iScience, Vol 26, Iss 10, Pp 107629- (2023)
مصطلحات موضوعية: Respiratory medicine, Public health, Virology, Genomics, Science
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Rossella Piras, Elisabetta Valoti, Marta Alberti, Elena Bresin, Caterina Mele, Matteo Breno, Lucia Liguori, Roberta Donadelli, Miriam Rigoldi, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
المصدر: Frontiers in Immunology, Vol 13 (2023)
مصطلحات موضوعية: atypical hemolytic uremic syndrome (aHUS), eculizumab, factor H (FH), factor H-related proteins (FHRs), complement, copy number variations (CNVs), Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi, Rossella Parini
المصدر: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 155-161 (2018)
مصطلحات موضوعية: NIHF, Non-immune hydrops fetalis, LSDs, MPS VII, GUSB gene, Beta-glucuronidase, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Miriam Rigoldi, Elena Verrecchia, Raffaele Manna, Maria Teresa Mascia
المصدر: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 17-24 (2018)
مصطلحات موضوعية: Mucopolysaccharidosis, Attenuated MPS, Musculo-skeletal signs, Heart valve disease, Eye involvement, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: GALNS, Morquio a disease, Mucopolysaccharidosis IVA, Deep intronic mutations, mRNA defects, Whole gene sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano, Gaia Roversi
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Copy number variations, Chromosome 13 p arm, Unbalanced translocation, FISH, Array-CGH, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Cobalamin disorders, Methylmalonic aciduria, Homocystinuria, Massive parallel sequencing, Medicine
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Rossella Parini, Miriam Rigoldi, Lucia Tedesco, Lucia Boffi, Alessandra Brambilla, Sara Bertoletti, Agata Boncimino, Alessandra Del Longo, Paola De Lorenzo, Renato Gaini, Denise Gallone, Serena Gasperini, Carlo Giussani, Marco Grimaldi, Daniele Grioni, Pamela Meregalli, Grazia Messinesi, Francesca Nichelli, Marco Romagnoli, Pierluigi Russo, Erik Sganzerla, Grazia Valsecchi, Andrea Biondi
المصدر: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 65-74 (2015)
مصطلحات موضوعية: MPS II, Hunter disease, Hunter syndrome, Mucopolysaccharidosis type II, ERT, Enzymatic replacement therapy, Idursulfase, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà, Gaia Roversi, Angela Bentivegna
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 5, p 1095 (2019)
مصطلحات موضوعية: chromosome 16, array-CGH, CNV, developmental disability, speech disorder, two-hit model, 16p13.11 deletions and duplications, 16p11.2 deletions and duplications, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource