Zobrazeno 1 - 10
of 5 094
pro vyhledávání: '"NIGRO V."'
Autor:
Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Ricci M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bruno C; Center of Translational and Experimental Myology, and Dept. of NeuroscienceGenetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini Rehabilitation Ophtalmology, Genoa, Italy., Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Bello L; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy., Pegoraro E; Neurology Unit, Azienda Ospedale Padova Università Padova, Padua, Italy., D'Angelo MG; Unit of Rare Diseases of the Central and Peripheral Nervous System Scientific Institute IRCCS E Medea, Bosisio Parini (Lecco), Italy., Masson R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy., Berardinelli A; C. Mondino Foundation, Pavia, Italy., Pini A; Pediatric Neuromuscular Unit, IRCCS Institute of the , Neurological Sciences of Bologna, Bologna, Italy., Ricci F; Child Neuropsychiatry Unit, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy., Mongini TE; Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy., Coccia M; Centro Clinico NeMO (NeuroMuscular Omnicentre) Ancona, AOU Ospedali Riuniti Di Ancona, Ancona, Italy., Nigro V; Medical Genetics and Cardiomyology Unit, Department of Precision Medicine, Università Degli Studi Della Campania 'Luigi Vanvitelli', Naples, Italy and TIGEM, Pozzuoli, Italy., Trabacca A; Scientific Institute IRCCS E. Medea, Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia (Italy), Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy., Comi G; Neurology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Magri F; Neurology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Barp A; Centro Clinico Nemo Trento, Ospedale Villarosa, APSS, Pergine Valsugana, Trento, Italy., Battini R; Department Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Previtali SC; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy., Diella E; Unit of Rare Diseases of the Central and Peripheral Nervous System Scientific Institute IRCCS E Medea, Bosisio Parini (Lecco), Italy., Dosi C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Developmental Neurology Unit, Milan, Italy., Ruggiero L; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy., Siciliano G; Department of Clinical and Experimental Medicine, Neurology Unit, Pisa, Italy., Ricci G; Department of Clinical and Experimental Medicine, Neurology Unit, Pisa, Italy., Catteruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Arpaia C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Norcia G; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Bonanno S; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Verriello L; Neurology Unit, Department of Neurosciences, University Hospital Santa Maria Della Misericordia, Udine, Friuli-Venezia Giulia, Italy., Agosto C; Dipartimento Di Salute Della Donna E del Bambino, Università Di Padova, Padua, Italy., Varone A; Pediatric Neurology, Santobono-Pausilipon Childrens Hospital, Naples, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Maioli MA; Centro Sclerosi Multipla, ASSL Cagliari, P.O. Binaghi, Cagliari, Italy., Brogna C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy., Siliquini S; Azienda Ospedaliera Universitaria Delle Marche. Ancona, Ancona, Italy., Bruno I; Institute for Maternal and Child Health, IRCCS, Trieste, Burlo Garofolo, Italy., Panicucci C; Center of Translational and Experimental Myology, and Dept. of NeuroscienceGenetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini Rehabilitation Ophtalmology, Genoa, Italy., Allegra C; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@unicatt.it.; Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@unicatt.it.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Dec 16; Vol. 184 (1), pp. 86. Date of Electronic Publication: 2024 Dec 16.
Autor:
Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy., Zeuli R; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Daolio C; Pediatric Unit, Carlo Poma Hospital, Mantova, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine, Italy., Zampieri S; Regional Coordinating Center for Rare Diseases, Udine, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63713. Date of Electronic Publication: 2024 Jun 26.
Akademický článek
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Akademický článek
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Autor:
Nosrati MSS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Doustmohammadi A; Department of Bioinformatics and Computational Biophysics, Faculty of Biology, University of Duisburg-Essen, Essen, Germany., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zafari M; Department of Bioengineering, Northeastern University, Boston, Massachusetts, USA., Nemati AH; Department of Epidemiology and Biostatistics, Pasteur Institute of Iran, Tehran, Iran., Velmans C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Breuer J; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Broekaert IJ; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Joachim A; Department of Pediatrics, Faculty of Health, Helios University Medical Center Wuppertal, Witten/Herdecke University, Witten, Germany., Almasri N; Department of Rehabilitation Sciences College of Health Sciences, Qatar University, Doha, Qatar.; Department of Physiotherapy School of Rehabilitation Sciences, University of Jordan, Amman, Jordan., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; College of Health Solutions, Arizona State University, Tempe, Arizona, USA., Bisarad P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Hoque J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Buffelli F; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Fulcheri E; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Müller A; Pediatric Pathology, University Clinic of Cologne, Cologne, Germany., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Publikováno v:
Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 83-90. Date of Electronic Publication: 2024 Sep 21.
Autor:
De Falco A; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., De Gregorio F; Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy., Abate ME; Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy., Paolella C; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Scala I; Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy., Brunetti-Pierri N; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec 20, pp. e63966. Date of Electronic Publication: 2024 Dec 20.
Autor:
Gorgoglione D; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Sabbatini D; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.; Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padova, 35131 Padova, Italy., Riguzzi P; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Capece G; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Servidei S; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy., Briganti M; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Fondazione UILDM Lazio Onlus, 00167 Rome, Italy., Sancricca C; Neurophysiopathology unit Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Fondazione UILDM Lazio Onlus, 00167 Rome, Italy., Bruschi F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Masson R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Gallone A; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy., Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy., Picillo E; Medical Genetics and Cardiomyology, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Politano L; Cardiomyology and Medical Genetics, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Petrosino A; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Vianello S; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Penzo M; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Villa M; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Allegra C; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Barp A; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Di Bari A; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Salmin F; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Albamonte E; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Colacicco G; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Traverso M; Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Palermo C; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Lerario A; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., Velardo D; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., D'Angelo MG; Unit of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS Eugenio Medea, 23842 Bosisio Parini, Italy., Berardinelli A; IRCCS Mondino Foundation, 27100 Pavia, Italy., Gardani A; IRCCS Mondino Foundation, 27100 Pavia, Italy., Nicotra R; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy., Parravicini S; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Ricci G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Torri F; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Gadaleta G; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Urbano G; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Rolle E; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Ricci F; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., D'Amico A; IRCCS, Unit of Muscular and Neurodegenerative disorders, Bambino Gesù Children's Hospital, 00165 Rome, Italy., Catteruccia M; IRCCS, Unit of Muscular and Neurodegenerative disorders, Bambino Gesù Children's Hospital, 00165 Rome, Italy., Pini A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Neuromuscular Pediatric Unit, 40139 Bologna, Italy., Giannotta M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Neuromuscular Pediatric Unit, 40139 Bologna, Italy., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Marinella G; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Previtali SC; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Zambon AA; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Fortunato F; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Magri F; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy., Mongini TE; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, 10126 Turin, Italy., Sansone VA; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, 16132 Genova, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Nigro V; Medical Genetics and Cardiomyology, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy.; Telethon Institute of Genetics and Medicine, 80078, Italy., Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy., Bello L; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy., Pegoraro E; Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Nov 05. Date of Electronic Publication: 2024 Nov 05.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Autor:
Delgado-Vega AM; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. angelica.delgado.vega@ki.se., Cederroth H; Wilhelm Foundation, Brottby, Sweden., Taylan F; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ekholm K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Ek M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Thonberg H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Jemt A; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Eisfeldt J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bilgrav Saether K; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Höijer I; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Asano Y; Swallow Design Studio, Tokyo, Japan., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Undiagnosed Diseases Program, Genetic Health WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Medicine, Australian National University, Perth, Western Australia, Australia., Bodamer O; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Corcoran P; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Couse M; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Dohi E; National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Erhardsson M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fernandez-Luna L; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Fujiwara T; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan., Garg N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Giugliani R; Casa dos Raros, Porto Alegre, Brazil.; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Dasa Genomica, São Paulo, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico., Grigelioniene G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Telethon Kids Institute, Perth, Western Australia, Australia.; School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Perth, Western Australia, Australia., Gunnarsson C; Department of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden., Hammarsjö A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Hammond CK; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; Department of Child Health, Komfo Anokye Teaching Hospital, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hatirnaz Ng Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Hesketh S; Oxford Nanopore Technologies, Oxford, UK., Hettiarachchi D; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Johansson Soller M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kirmani UA; Karachi Grammar School, Karachi, Pakistan., Kjellberg M; KTH Royal Institute of Technology, Stockholm, Sweden., Kvarnung M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kvlividze O; School of Medicine, New Vision University, Tbilisi, Georgia.; Georgian Foundation for Genetic and Rare Diseases, Tbilisi, Georgia., Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lasko P; Department of Biology, McGill University, Montreal, Quebec, Canada., Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Lau LYS; Genome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Lim WK; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Liu Z; Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lysenkova Wiklander M; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Makay P; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo., Maiga AB; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Maya-González C; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA., Neethiraj R; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.; School of Engineering Science in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden., Nigro V; Department of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.; TIGEM (Telethon Institute of Genetics and Medicine), Naples, Italy., Nordgren F; Department of Management and Engineering, Linköping University, Linköping, Sweden., Nordlund J; Science for Life Laboratory, Uppsala University, Uppsala, Sweden.; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Orrsjö S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ottosson J; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ozbek U; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Rare and Undiagnosed Disease Platform-RUDiP, Izmir Biomedicine and Genome Center-IBG, Izmir, Turkey., Özdemir Ö; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Biology, School of Medicine, Acibadem University, Istanbul, Turkey., Partin C; Medicine, Emory Healthcare, Emory University, Atlanta, GA, USA.; Emory Special Diagnostic Services Clinic, Emory University School of Medicine, Atlanta, GA, USA., Pearce DA; Sanford Research, Sioux Falls, SD, USA.; Sanford Health, Sioux Falls, SD, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA.; International Rare Disease Research Consortium (IRDiRC)., Peck R; Clarion I, London, UK., Pedersen A; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Pettersson M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Pongpanich M; Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.; Omics Sciences and Bioinformatics Center, Faculty of Science, Chulalongkorn University, Bangkok, Thailand., Posada de la Paz M; SpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.; FCSAI, Madrid, Spain., Ramani A; Invitae, San Francisco, CA, USA., Romero JA; Universidad San Francisco de Quito, Quito, Ecuador., Romero VI; Universidad San Francisco de Quito, Quito, Ecuador., Rosenquist R; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden., Saw AM; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Neurology, University Hospital of Wales, Cardiff, UK., Spencer M; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Tapia-Paez I; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Study Centre KOS-Science, Art, Society, Rome, Italy., Taylor JP; Illumina Inc, San Diego, CA, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.; Center for Undiagnosed and Rare Diseases, Tbilisi State Medical University, Tbilisi, Georgia., Tully I; The Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.; Department of Clinical Genetics, University Hospital of Wales, Cardiff, UK., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Copenhagen, Denmark., van Zelst-Stams WAG; Department of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands., Verloes A; ERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Västerviga E; Bioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.; Bioinformatics and Data Centre, Sahlgrenska University Hospital, Gothenburg, Sweden., Wang S; Division of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden., Yang R; Rare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.; China Alliance for Rare Diseases, Beijing, China., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany., Zhang Q; Illumina Inc, San Diego, CA, USA., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.; ACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.; Department of Medical Genetics, Acibadem University, Istanbul, Turkey., Botto LD; Division of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA., Kirmani S; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan., Lumaka A; Centre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR, Congo.; African Rare Diseases Initiative., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.; Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER), Sir Ganga Ram Hospital, New Delhi, India., Wirta V; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden., Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Cederroth M; Wilhelm Foundation, Brottby, Sweden., Nordgren A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ann.nordgren@ki.se.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden. ann.nordgren@ki.se.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ann.nordgren@ki.se.
Publikováno v:
Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2287-2294.
Autor:
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' Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 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 Vanvitell,' 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 Vanvitell,' Naples, Italy., Rotundo G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 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 Vanvitell,' 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, 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, Naples, 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, 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' Naples, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' 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, Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padua, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' 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.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101241. Date of Electronic Publication: 2024 Aug 10.