학술논문
'학술논문'
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Academic Journal
Zampieri S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Cattarossi S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Pavan E; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Barbato A; Department of Clinical Medicine and Surgery, Federico II University Hospital, 80131 Naples, Italy.; Fiumara A; Pediatric Unit, Regional Referral Center for Inherited Metabolic Disease, University of Catania, 95123 Catania, Italy.; Peruzzo P; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Ciana G; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.; Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, 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
Bembi B; Marsala SZ; Sidransky E; Ciana G; Carrozzi M; Zorzon M; Martini C; Gioulis M; Pittis MG; Capus L; Bembi, B; Zambito Marsala, S; Sidransky, E; Ciana, G; Carrozzi, M; Zorzon, M; Martini, C; Gioulis, M; Pittis, M G; Capus, L
Neurology; 2003 Jul 8, Vol. 61 Issue 1, p99-101, 3p
Academic Journal
Ciana G; Pediatric Department, Hospital of Merano, Merano, Italy.; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.; Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.; Pavan E; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.; Da Riol RM; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.; Biasizzo J; Institute of Clinical Pathology, University Hospital of Udine, ASUFC, Udine, Italy.; Ferino D; Institute of Clinical Pathology, University Hospital of Udine, ASUFC, Udine, Italy.; Zanatta M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.; Boni A; U.O. di Neuropsichiatria Infantile, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Antonini L; UO di Neurofisiopatologia, Spedali Civili di Brescia, Brescia, Italy.; Crichiutti G; Pediatric Department, University Hospital of Udine, Udine, Italy.; Bembi B; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Valent F; Institute of Hygiene and Clinical Epidemiology, University Hospital of Udine, Udine, Italy. Electronic address: francesca.valent@asuiud.sanita.fvg.it.; Deroma L; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Moro A; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Ciana G; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Martina P; Insiel SpA, Udine, Italy.; De Martin F; Insiel SpA, Udine, Italy.; Michelesio E; Insiel SpA, Udine, Italy.; Da Riol MR; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Macor D; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Bembi B; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Publisher: Elsevier Country of Publication: United States NLM ID: 100883818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4733 (Electronic) Linking ISSN: 10983015 NLM ISO Abbreviation: Value Health Subsets: MEDLINE
Editorial & Opinion
Dardis A; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Pianta A; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Zampieri S; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Zanin I; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Bertoli M; Department of Medical Genetics, Ospedale San Pietro Fatebenefratelli, Rome, Italy.; International Centre for Life, Central Parkway, Institute of Genetic Medicine, Newcastle upon Tyne, UK.; Cazzagon M; Unitá per le disabilitá gravi in etá evolutiva, IRCCS E. Medea-La Nostra Famiglia, Udine, Italy.; Bregant E; Institute of Medical Genetics, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Damante G; Institute of Medical Genetics, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Dipartimento di area Medica, Università di Udine, Udine, Italy.; Bembi B; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.; Ciana G; Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital 'Santa Maria della Misericordia' Udine, Udine, Italy.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Devigili G; Department of Neurology, AMC Hospital of Udine, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; De Filippo M; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Ciana G; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Dardis A; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Lettieri C; Department of Neurology, AMC Hospital of Udine, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Rinaldo S; Department of Neurology, AMC Hospital of Udine, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Macor D; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Moro A; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Eleopra R; Department of Neurology, AMC Hospital of Udine, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.; Bembi B; Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy. bruno.bembi@asuiud.sanita.fvg.it.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Bembi B; Marchetti F; Guerci VI; Ciana G; Addobbati R; Grasso D; Barone R; Cariati R; Fernandez-Guillen L; Butters T; Pittis MG
Academic Journal
Reunert J; Department of Pediatrics, University Hospital of Muenster, Muenster, Germany.; Lotz-Havla AS; Polo G; Kannenberg F; Fobker M; Griese M; Mengel E; Muntau AC; Schnabel P; Sommerburg O; Borggraefe I; Dardis A; Burlina AP; Mall MA; Ciana G; Bembi B; Burlina AB; Marquardt T
Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Academic Journal
Barone R; Pediatric Neurology Policlinico, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy, rbarone@unict.it.; Carrozzi M; Parini R; Battini R; Martinelli D; Elia M; Spada M; Lilliu F; Ciana G; Burlina A; Leuzzi V; Leoni M; Sturiale L; Matthijs G; Jaeken J; Di Rocco M; Garozzo D; Fiumara A
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
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