학술논문
'학술논문'
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1~10
Academic Journal
Mastromoro G; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Santoro C; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Via Luigi de Crecchio 2, 80138 Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Largo Madonna delle Grazie 1, 80138 Naples, Italy.; Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Daniele P; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Department of Medical Genetics, AP-HP, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Petrizzelli F; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Tripodi M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Rotundo G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Lepri F; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Farina A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; D'Asdia MC; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Biagini T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Petracca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Castori M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy.; Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Tricase, Italy.; Traficante G; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy.; Tarani L; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.; Fontana P; Medical Genetics Unit - P.O. Gaetano Rummo - A.O.R.N. San Pio, Benevento, BN, Italy.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.; Paparella R; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Scala I; Department of Maternal and Child Health, Section of Pediatrics, Federico II University, Napoli, Italy.; Dentici ML; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Trevisan V; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Cecconi A; Ambulatorio Integrato di Genetica Medica, USL Toscana Centro, Florence, Italy.; Giustini S; Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy.; Pizzuti A; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.; Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.; Novelli A; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Genuardi M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.; Digilio MC; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Papi L; Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Perrotta S; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Via Luigi de Crecchio 2, 80138 Naples, Italy.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Castellanos E; Clinical Genomics Research Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HGTP), Can Ruti Campus, Badalona, Barcelona, Spain.; Mazza T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padova, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.; Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@css-mendel.it.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Berti B; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Verrigni D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Di Nottia M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Leone D; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Torraco A; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Rizza T; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Bellacchio E; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Palermo C; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Marchet S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Mercuri EM; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy.; Bertini ES; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Pane M; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy.; Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
Zanni, Ginevra; De Magistris, P.; Nardella, M.; Bellacchio, E.; Barresi, S.; Sferra, A.; Ciolfi, A.; Motta, M.; Lue, H.; Moreno-Andres, D.; Tartaglia, M.; Bertini, E.; Antonin, Wolfram
The Cerebellum. 18(3):422-432
Academic Journal
Rinelli, M.; Bellacchio, E.; Berardinelli, F.; Pascolini, G.; Grammatico, P.; Sgura, A.; Iori, A. P.; Quattrocchi, L.; Novelli, A.; Majore, S.; Agolini, E.
Annals of Hematology. 98(3):805-807
Academic Journal
Cudini A; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Nardella C; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Bellacchio E; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Palma A; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Delfino DV; Section of Pharmacology, Department of Medicine and Surgery, University of Perugia, 06129 Perugia, Italy.; Betterle C; Padua University, 35128 Padua, Italy.; Cappa M; Research Unit for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Fierabracci A; Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
Cammarata-Scalisi F; Unit of Genetic Medicine, Department of Childcare Pediatrics, University of Los Andes, Mérida, Venezuela.; Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.; Callea M; Meyer Children's Hospital IRCCS, Pediatric Dentistry and Special Dental Care unit, Florence, Italy.; Chaudhary AK; Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Tadich AC; Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.; Castillo MA; Clinical Laboratory, Regional of Antofagasta Hospital, Chile.; Morabito A; Department of Pediatric Surgery, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neurosciences, Psychology Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.; School of Health and Society, University of Salford, Salford, UK.; Bellacchio E; Molecular Genetics and Functional Genomics Research Unit.; Pisaneschi E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Willoughby CE; Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine, Northern Ireland.; Bashyam MD; Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE
Academic Journal
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, January 2024, 25(1))
Academic Journal
Rinelli, M.; Bellacchio, E.; Berardinelli, F.; Pascolini, G.; Grammatico, P.; Sgura, A.; Iori, A. P.; Quattrocchi, L.; Novelli, A.; Majore, S.; Agolini, E.
Annals of Hematology. 98(3):809-809
Academic Journal
Priolo M; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy. prioloma@libero.it.; Zara E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Department of Biology and Biotechnology, Sapienza University, 00185, Rome, Italy.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Spadaro F; Core Facilities, Istituto Superiore di Sanità, 00161, Rome, Italy.; Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Pantaleoni F; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161, Rome, Italy.; Chiriatti L; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.; Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Africa E; USD Neuroradiologia, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.; Mammì C; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.; Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Università di Salerno, 84084, Salerno, Italy.; Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Bellacchio E; Genetica Molecolare e Genomica Funzionale, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
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