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pro vyhledávání: '"Di Giacomo MC"'
Akademický článek
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Akademický článek
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Autor:
Engel C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr., Valence S; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France., Delplancq G; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Baglioni V; Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Rome, Italy., Bagnasco I; Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, 10141, Turin, Italy., Becmeur-Lefebvre M; Service de Génétique Clinique, CHR d'Orléans, Orléans, France., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Borggraefe I; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Bruel AL; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Brusco A; Department of Medical Sciences, University of Torino, 10126, Turin, Italy., Bubshait DK; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Cabrol C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Cilio MR; Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain, Brussels, Belgium., Cornet MC; Department of Pediatrics, Division of Neonatology, University of California San Francisco, San Francisco, CA, USA., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Danhaive O; Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental Research (IREC), Bruxelles, Belgium., Delague V; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France., Denommé-Pichon AS; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Di Giacomo MC; Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica, 'San Carlo' Hospital, 85100, Potenza, Italy., Doco-Fenzy M; CHU Reims, Service de Génétique, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France.; L'institut du thorax, INSERM, UNIV Nantes, Nantes, France., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Gérard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France., Gleeson JG; University of California San Diego, Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA, 92037, USA., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Goffeney J; Service de neuropédiatrie, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Guimier A; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Iacomino M; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy., Kaiyrzhanov R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Karimiani EG; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK., Kraus D; Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Kuentz P; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, France., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lederer D; Institute for Pathology and Genetics, 6040, Gosselies, Belgium., Massingham L; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA., Mignot C; APHP, Sorbonne Université, Département de Génétique, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié-Salpêtrière/Hôpital Armand Trousseau, Paris, France., Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; NHLI, Imperial College London, London, UK., Nagarajan L; Department of Neurology, Perth Children's Hospital, Nedlands, WA, Australia.; University of Western Australia, Nedlands, WA, Australia., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Ormières C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Partlow JN; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Penney L; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada., Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Piccolo G; UOSD Neuro-oncology, IRCCS Giannina Gaslini, Genova, Italy., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Putoux A; Hospices Civils de Lyon, Service de Génétique, Bron, France.; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France., Salpietro V; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Scheffer I; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.; Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Schneider A; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Straussberg R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Striano P; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Venot P; Neonatal Intensive Care Unit, Institut Alix de Champagne, Reims, France., Villard L; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.; Département de Génétique Médicale, AP-HM, Hôpital d'Enfants de La Timone, Marseille, France., Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Wagner J; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Wagner M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.; Institute for Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zara F; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Yassaee VR; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Beiraghi M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Walsh C; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tacke M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Sadykova D; Astana Medical University, Nur-Sultan, Kazakhstan., Maidyrov Y; S. D. Asfendiyarov Kazakh National Medical University Almaty, Almaty, Kazakhstan., Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan., Shashkin C; Department of Neurology, The International Institute of Postraduate Education, Almaty, Kazakhstan., Capra V; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Van Maldergem L; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France., Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Sep; Vol. 31 (9), pp. 1023-1031. Date of Electronic Publication: 2023 Jun 21.
Autor:
Mussa A; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, 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, Roma, Italy., Iacoviello M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Carli D; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy., Ranieri C; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Pantaleo A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Buonuomo PS; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Bagnulo R; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Ferrero GB; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Maitz S; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Turchiano A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piglionica M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., De Luisi A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Susca FC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Bukvic N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Forleo C; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Selicorni A; Pediatric Department, ASST Lariana, Monza, 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, Roma, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Cappuccio G; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Novelli C; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy., Memo L; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Morando C; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Accadia M; Medical Genetics Unit, Hospital 'Cardinale G. Panico', Tricase, Italy., Capurso M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Di Giacomo MC; Unit of Pathology and Medical Genetics, AOR Ospedale 'San Carlo', Potenza, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy., Lastella P; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy., Tenconi R; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy., Dvorakova V; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Irvine AD; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Resta N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy nicoletta.resta@uniba.it.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Feb; Vol. 60 (2), pp. 163-173. Date of Electronic Publication: 2022 Mar 07.
Autor:
Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., McConkey H; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Piemontese MR; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Tricase, Lecce, Italy., Biamino E; Department of Pediatrics, University of Turin, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Largo A Cardarelli, Napoli, Italy., Di Giacomo MC; UOC Anatomia Patologica, AOR 'San Carlo', Hospital Potenza, Italy., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Melis D; Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy., Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy. Electronic address: giuseppe.merla@unina.it.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 51-60. Date of Electronic Publication: 2021 Nov 30.
Autor:
Di Muro E; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Benvenuto M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039 Tricase (Lecce), Italy., Di Giacomo MC; U.O.C di Anatomia Patologica, AOR Ospedale 'San Carlo', 85100 Potenza, Italy., Manieri S; U.O.C di Pediatria, AOR Ospedale 'San Carlo', 85100 Potenza, Italy., Abate R; U.O.C di Pediatria, AOR Ospedale 'San Carlo', 85100 Potenza, Italy., Tagliente M; U.O.C di Pediatria, AOR Ospedale 'San Carlo', 85100 Potenza, Italy., Castellana S; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Mazza T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
Publikováno v:
Genes [Genes (Basel)] 2021 Jul 23; Vol. 12 (8). Date of Electronic Publication: 2021 Jul 23.
Autor:
Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Di Muro E; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039 Tricase (Lecce), Italy., Benvenuto M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Di Giacomo MC; U.O.C di Anatomia Patologica, AOR Ospedale 'San Carlo', 85100 Potenza, Italy., Castellana S; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Mazza T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
Publikováno v:
Genes [Genes (Basel)] 2021 Feb 05; Vol. 12 (2). Date of Electronic Publication: 2021 Feb 05.
Autor:
Squeo GM; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Augello B; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Massa V; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Milani D; UOSD Pediatria ad alta intensità di cura, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Colombo EA; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Mazza T; Bioinformatics Unit, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castellana S; Bioinformatics Unit, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piccione M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Petracca A; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Tricase, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Largo A Cardarelli, Napoli, Italy., Di Giacomo MC; UOC Anatomia Patologica, AOR Ospedale 'San Carlo', Potenza, Italy., Melis D; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Napoli, Italy., Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy., Giglio S; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Medical Genetics Unit, University Hospital Meyer, Firenze, Italy., Fischetto R; Metabolic Diseases, Clinical Genetics and Diabetology Unit, Paediatric Hospital Giovanni XXIII, Bari, Italy., Di Fede E; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Malerba N; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Russo M; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castori M; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Gervasini C; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Merla G; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy g.merla@operapadrepio.it.
Publikováno v:
Journal of medical genetics [J Med Genet] 2020 Nov; Vol. 57 (11), pp. 760-768. Date of Electronic Publication: 2020 Mar 13.
Autor:
Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it., Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Bertuzzo S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Beri S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Mehrjouy MM; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Provenzano A; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Vergani D; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Pecile V; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Novara F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Reho P; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Di Giacomo MC; Laboratorio di Citogenetica U.O.C. Anatomia Patologica AOR Ospedale San Carlo, Potenza, Italy., Discepoli G; Laboratorio di Genetica Medica-SOD Clinica Pediatrica, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy., Giorda R; Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Aldred MA; Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, USA., Santos-Rebouças CB; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Goncalves AP; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Abuelo DN; Warren Alpert School of Medicine of Brown University, Providence, RI, 02903, USA., Giglio S; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Ricca I; IRCCS Fondazione Stella Maris, Pisa, Italy., Franchi F; Medical Genetics Laboratory, Azienda Ospedaliera di Reggio Emilia, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Patsalis P; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Morí MA; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Nevado J; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Tommerup N; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy. orsetta.zuffardi@unipv.it.
Publikováno v:
Human genetics [Hum Genet] 2018 Oct; Vol. 137 (10), pp. 817-829. Date of Electronic Publication: 2018 Oct 01.
Autor:
Marangi G; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Di Giacomo MC; U.O.C Anatomia Patologica, AOR Ospedale 'San Carlo', Potenza, Italy., Lattante S; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Orteschi D; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Patrizi S; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Doronzio PN; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Riviello FN; U.O.C Anatomia Patologica, AOR Ospedale 'San Carlo', Potenza, Italy., Vaisfeld A; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Frangella S; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy., Zollino M; Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Feb; Vol. 176 (2), pp. 455-459. Date of Electronic Publication: 2017 Dec 11.