부산대학교 도서관

Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.; Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.; Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.; Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy.; Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.; Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.; Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.; Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland.; Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia.; Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Buoni S; di Bartolo RM; Molinelli M; Palmeri S; Zannolli R; Buoni, S; Di Bartolo, R M; Molinelli, M; Palmeri, S; Zannolli, R

Neurology; 2003 Oct 28, Vol. 61 Issue 8, p1129-1131, 3p

Khaikin Y; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; Sidky S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; Abdenur J; Division of Metabolic Disorders, CHOC Children's, Hospital Orange, CA, USA.; Anastasi A; Department of Medicine, Centre Hospitalier Le Vinatier, Bron, France.; Ballhausen D; Center of Molecular Diseases, University Children's Hospital Lausanne, Lausanne, Switzerland.; Buoni S; Department of Molecular and Developmental Medicine, Section of Child Neurology and Psychiatry, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy.; Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Cheillan D; Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, Hospices Civils de Lyon - INSERM1060, Université de Lyon, Lyon France.; Dorison N; AP-HP Service de Neuropediatrie, Pathologie du Developpement, Hopital Trousseau, Paris, France.; Goldenberg A; Service de Génétique Médicale, CHU Rouen, Rouen, France.; Goldstein J; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Hofstede FC; Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Jacquemont ML; Unité de Génétique médicale, CHU La Réunion, Saint Pierre, France.; Koeberl DD; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Lion-Francois L; Service de Neuropédiatrie, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Lund AM; Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen, Denmark.; Mention K; Centre de référence des Maladies Héréditaires du métabolisme, Hopital Jeanne De Flandre, CHRU Lille, France.; Mundy H; Evelina Centre for Inherited Metabolic Disease, Goys and St Thomas NHS Foundation Trust, Evelina Children's Hospital, London, UK.; O'Rourke D; Temple Street Children's University Hospital, Temple Street, Dublin, Ireland.; Pitelet G; Department of Pediatrics, Chulenval, Nice, France.; Raspall-Chaure M; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Tassini M; The NMR Center University of Siena, Siena, Italy.; Billette de Villemeur T; Sorbonne University UPMC GRC ConCer-LD and AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France.; Williams M; Department of Pediatrics, Sophia Childrens Hospital, Erasmus Medical Center, The Netherlands; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center & Neuroscience Campus, Amsterdam, The Netherlands.; Salomons GS; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center & Neuroscience Campus, Amsterdam, The Netherlands.; Mercimek-Andrews S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: saadet.andrews@sickkids.ca.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Buoni S; Zannolli R; Hayek J

Neurology; 7/7/2009, Vol. 73 Issue 1, p76-77, 2p

Buoni S; Orrico A; Galli L; Zannolli R; Burroni L; Hayek J; Fois A; Sorrentino V

Neurology; 2006 Feb 28, Vol. 66 Issue 4, p606-607, 2p

Buoni S; Zannolli R; Macucci F; Pieri S; Galluzzi P; Mariottini A; Fois A; Buoni, S; Zannolli, R; Macucci, F; Pieri, S; Galluzzi, P; Mariottini, A; Fois, A

Neurology; 2004 Oct 26, Vol. 63 Issue 8, p1539-1540, 2p

Zannolli R; Mohn A; Buoni S; Pietrobelli A; Messina M; Chiarelli F; Miracco C

Acta Paediatrica (ACTA PAEDIATR), Jul2008; 97(7): 952-954. (3p)

Signorini C; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.; De Felice C; Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Leoncini S; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Zollo G; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Buoni S; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Cortelazzo A; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Guerranti R; Department of Medical Biotechnologies,University of Siena, Siena, Italy.; Durand T; Institut des Biomolécules Max Mousseron (IBMM), UMR 5247-CNRS-UM-ENSCM, Montpellier, France.; Ciccoli L; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.; D'Esposito M; Institute of Genetics and Biophysics 'A. Buzzati-Traverso', Naples, Italy.; IRCSS Neuromed, Pozzilli, Italy.; Ravn K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Hayek J; Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Dhanraj S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Gunja SM; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Deveau AP; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada.; Nissbeck M; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Boonyawat B; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Coombs AJ; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.; Renieri A; Department of Medical Genetics, University of Siena, Siena, Italy.; Mucciolo M; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.; Marozza A; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.; Buoni S; Neuropsichiatria Infantile, Azienda Ospedaliera, Universitaria Senese, Siena, Italy.; Turner L; Department of Discipline of Genetics, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.; Li H; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Jarrar A; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.; Sabanayagam M; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Kirby M; Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Shago M; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.; Pinto D; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Mount Sinai School of Medicine, New York, New York, USA.; Berman JN; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.; Scherer SW; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Virtanen A; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.; Dror Y; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Buoni S; Department of Molecular Medicine and Developmental Medicine, Section of Child Neurology and Psychiatry, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy.; Geronzi U; Department of Molecular and Developmental Medicine, Pediatrics Section, University of Siena, Siena, Italy.; Orsi A; Department of Molecular Medicine and Developmental Medicine, Section of Child Neurology and Psychiatry, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy.; Hayek Y; Department of Molecular Medicine and Developmental Medicine, Section of Child Neurology and Psychiatry, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Siena, Italy.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101614202 Publication Model: eCollection Cited Medium: Print ISSN: 2213-3232 (Print) Linking ISSN: 22133232 NLM ISO Abbreviation: Epilepsy Behav Case Rep Subsets: PubMed not MEDLINE