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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: Sabrina Ravaglia, Nicola Barbarito, Alberto Malovini, Serena Cirio, Anna Pichiecchio, Paola De Filippi, Cesare Danesino, Annalisa Carlucci
المصدر: Pulmonology, Vol 27, Iss 6, Pp 566-568 (2021)
مصطلحات موضوعية: Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sabrina Ravaglia, Rachele de Giuseppe, Annalisa Carlucci, Susan Jehne, Grazia Crescimanno, Lara Ahmad, Matteo Paoletti, Gabriele Clemente, Anna Pichiecchio, Rosella Bazzano, Serena Cirio, Enza Maria Valente, Cesare Danesino, Paola De Filippi, Alice Tartara, Hellas Cena
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: late-onset pompe disease, enzyme replacement therapy, nutritional assessment, long-term effectiveness, outcome, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Nicola Barbarito, Anna Pichiecchio, Alberto Malovini, Sabrina Ravaglia, Annalisa Carlucci, Paola De Filippi, Serena Cirio, Cesare Danesino
المصدر: Pulmonology, Vol 27, Iss 6, Pp 566-568 (2021)
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, RC705-779, business.industry, Glycogen Storage Disease Type II, Respiratory dysfunction, Late onset, Disease, Respiration Disorders, Diseases of the respiratory system, Muscular Diseases, Internal medicine, medicine, Cardiology, Humans, medicine.symptom, business, Myopathy
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المؤلفون: annalisa carlucci, nicola Barbarito, alberto malovini, piero ceriana, serena cirio, manuela piran, anna pichiecchio, paola de filippi, cesare danesino, sabrina ravaglia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fc4ac4a129fadd7c0419b6eb5a6c912
https://doi.org/10.21203/rs.3.rs-150715/v1 -
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المؤلفون: Roberta Galavotti, Simone Cesaro, Paola De Filippi, Claudia Cagioni, Ada Zaccaron, Marco Zecca, Cesare Danesino, Chiara Cugno, Anna Leszl, Geertruy te Kronnie, Silvia Bresolin, Svetlana Donska, Annamaria Di Meglio, Fiorenza Aprili
المصدر: International Journal of Hematology. 99:208-212
مصطلحات موضوعية: Graft Rejection, Male, medicine.medical_specialty, Biology, Chimera (genetics), Fatal Outcome, Internal medicine, Diseases in Twins, medicine, Humans, Transplantation, Homologous, juvenile chronic myelomonocitic leukemia, allogeneic bone marrow transplantation, therapy, Hematology, Juvenile myelomonocytic leukemia, Gene Expression Regulation, Leukemic, Gene Expression Profiling, Graft Survival, Remission Induction, Hematopoietic Stem Cell Transplantation, Infant, Twins, Monozygotic, Prognosis, medicine.disease, Transplantation, PTPN11, Leukemia, Treatment Outcome, medicine.anatomical_structure, Leukemia, Myelomonocytic, Juvenile, Cord blood, Immunology, Cord Blood Stem Cell Transplantation, Bone marrow
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المؤلفون: Sabrina Ravaglia, Cesare Danesino, Michela Ponzio, Anna Pichiecchio, Paola Bini, Paola De Filippi, Guy U. Poloni, Kolsoum Saeidi
المصدر: Molecular Genetics and Metabolism. 107:104-110
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Late onset, Peptidyl-Dipeptidase A, Biochemistry, Endocrinology, Polymorphism (computer science), Internal medicine, Glycogen storage disease type II, Genetics, medicine, Humans, Actinin, Enzyme Replacement Therapy, PPAR alpha, Age of Onset, Muscle, Skeletal, Molecular Biology, Gene, Aged, Polymorphism, Genetic, biology, Glycogen Storage Disease Type II, Angiotensin-converting enzyme, Enzyme replacement therapy, Middle Aged, medicine.disease, Treatment Outcome, biology.protein, Female, Peroxisome proliferator-activated receptor alpha
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المؤلفون: Riccardo Masetti, Geertruy te Kronnie, Franco Locatelli, Paola De Filippi, Lueder H. Meyer, Mirko D’Alia, Giuseppe Basso, Silvia Bresolin, Cesare Danesino, Marco Zecca, Francesca Vendemini
المساهمون: Bresolin, Silvia, De Filippi, Paola, Vendemini, Francesca, D'Alia, Mirko, Zecca, Marco, Meyer, Lueder H., Danesino, Cesare, Locatelli, Franco, Masetti, Riccardo, Basso, Giuseppe, te Kronnie, Geertruy
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, Male, Poor prognosis, Pediatrics, medicine.medical_specialty, Xenotransplantation, medicine.medical_treatment, SETBP1, Disease, medicine.disease_cause, JAK3, JMML, murine model, 03 medical and health sciences, Mice, 0302 clinical medicine, medicine, Animals, Humans, Gene, Nuclear Protein, Mutation, Juvenile myelomonocytic leukemia, business.industry, Animal, Janus kinase 3, Janus Kinase 3, Nuclear Proteins, medicine.disease, 030104 developmental biology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Oncology, Italy, Leukemia, Myelomonocytic, Juvenile, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Cancer research, Heterografts, Female, business, Carrier Protein, Heterograft, Carrier Proteins, Human, Research Paper
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe62511d1c96c0b82a8ae9e00bb93f59
http://hdl.handle.net/11573/1480277 -
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المؤلفون: Paola De Filippi, Vittorio Rosti, Daniela Lisini, Cesare Danesino, Franco Locatelli, Angela Mastronuzzi, Marco Zecca, Pierangelo Veggiotti, Alfonso D'Ambrosio, Carmelo Carlo-Stella, Claudia Cagioni, A. Acquaviva, Orietta Radi
المصدر: British Journal of Haematology. 147:706-709
مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, medicine.medical_specialty, Mutation, Hematology, Juvenile myelomonocytic leukemia, Buccal swab, Biology, medicine.disease, medicine.disease_cause, PTPN11, Leukemia, Germline mutation, Internal medicine, medicine, Cancer research
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المؤلفون: Cesare Danesino, Francesco Pasquali, Carmelo Carlo-Stella, Vittorio Rosti, Emanuela Maserati, Marco Zecca, Daniela Lisini, Niki Zavras, Orsetta Zuffardi, Daria Pagliara, Francesca Novara, Claudia Cagioni, Paola De Filippi, Franco Locatelli
المصدر: Pediatric Blood & Cancer. 59:580-582
مصطلحات موضوعية: Male, Neuroblastoma RAS viral oncogene homolog, medicine.medical_specialty, Juvenile, NRAS, medicine.disease_cause, Pediatrics, Germline mutation, Internal medicine, medicine, Humans, ras, JMML, Mutation, Leukemia, Hematology, Juvenile myelomonocytic leukemia, business.industry, Somatic mutation, Infant, Cancer, Myelomonocytic, Perinatology and Child Health, medicine.disease, Haematopoiesis, Genes, ras, Leukemia, Myelomonocytic, Juvenile, Genes, Oncology, Pediatrics, Perinatology and Child Health, Immunology, Neoplastic Stem Cells, Leukemia pathogenesis, business
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