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1. Full Text Competing to raise awareness of rare diseases
by Polizzi, Agata and Gentile, Amalia Egle and Taruscio, Domenica
Lancet neurology, ISSN 1474-4422, 08/2019, Volume 18, Issue 8, pp. 721 - 722
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medicine in the Arts | Rare Diseases | Health Knowledge, Attitudes, Practice | Humans | Health care | Medical personnel | Musicians & conductors | Humanities | Art | Social networks | Museums | Interdisciplinary aspects | Patients | Musical performances | Medicine | Mythology | Public health | Index Medicus
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2. Full Text RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
by Thompson, Rachel and Johnston, Louise and Taruscio, Domenica and Monaco, Lucia and Béroud, Christophe and Gut, Ivo G and Hansson, Mats G and ’t Hoen, Peter-Bram A and Patrinos, George P and Dawkins, Hugh and Ensini, Monica and Zatloukal, Kurt and Koubi, David and Heslop, Emma and Paschall, Justin E and Posada, Manuel and Robinson, Peter N and Bushby, Kate and Lochmüller, Hanns
Journal of general internal medicine : JGIM, ISSN 0884-8734, 8/2014, Volume 29, Issue S3, pp. 780 - 787
databases | genetics | medical informatics | Medicine & Public Health | Internal Medicine | clinical trials | Electronic health records | Health Care Sciences & Services | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | Biological and medical sciences | General aspects | Miscellaneous | Medical sciences | Health Information Exchange | Biological Specimen Banks | Humans | Computational Biology | Registries | Rare Diseases | Databases, Factual | Medical research | Medical colleges | Biological products | Medical genetics | Medicine, Experimental | Computational biology | Medical informatics | Genetics | Databases | Disease | Health informatics | Index Medicus | Life Sciences | Bioinformatics | Human genetics | Computer Science | Review
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3. Full Text The occurrence of 275 rare diseases and 47 rare disease groups in Italy. Results from the national registry of rare diseases
by Taruscio, Domenica and Vittozzi, Luciano and Rocchetti, Adele and Torreri, Paola and Ferrari, Luca
International journal of environmental research and public health, ISSN 1661-7827, 07/2018, Volume 15, Issue 7, p. 1470
Rare diseases | Italy | Data quality | Epidemiology | National registry | Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Prevalence | Humans | Age of Onset | Rare Diseases - epidemiology | Sex Distribution | Female | Italy - epidemiology | Male | Registries | Incidence | Studies | Respiratory distress syndrome | Health services | Mortality | Data collection | Population | Accreditation | Patients | DNA repair | Public health | Diseases | Index Medicus | rare diseases | data quality | epidemiology | national registry
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4. Full Text Improving the informed consent process in international collaborative rare disease research: Effective consent for effective research
by Gainotti, Sabina and Turner, Cathy and Woods, Simon and Kole, Anna and McCormack, Pauline and Lochmüller, Hanns and Riess, Olaf and Straub, Volker and Posada, Manuel and Taruscio, Domenica and Mascalzoni, Deborah
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1248 - 1254
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Rare Diseases - genetics | European Union | Genetics, Medical - standards | Humans | Genetic Diseases, Inborn - genetics | Databases, Nucleic Acid - standards | Genetics, Medical - organization & administration | Informed Consent - standards | International Cooperation | Genetics, Medical - legislation & jurisprudence | Information Dissemination | Data collections | Genomics | Licenses | Consortia | Ethics | Privacy | Researchers | Collaboration | Information sharing | Genetics | Informed consent | Research centers | Public health | Index Medicus
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5. Full Text Rare Diseases Epidemiology: Update and Overview
by Groft, Stephen C and Taruscio, Domenica and Paz, Manuel Posada de la
12/2017, Advances in Experimental Medicine and Biology, ISBN 9783319671420, Volume 1031, 649
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6. Full Text Do PFOS/PFOA levels in Italian women pose a risk to fetal growth?
by Mantovani, Alberto and Baldi, Francesca and Salerno, Paolo and Taruscio, Domenica
Reproductive toxicology (Elmsford, N.Y.), ISSN 0890-6238, 09/2019, Volume 88, pp. 16 - 17
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7. Full Text Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome
by Kodra, Yllka and Cavazza, Marianna and de Santis, Marta and Guala, Andrea and Liverani, Maria-Elena and Armeni, Patrizio and Masini, Maura and Taruscio, Domenica
International journal of environmental research and public health, ISSN 1660-4601, 08/2020, Volume 17, Issue 16, p. 5951
Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Caregivers | Schedules | Costs | Disease | Valuation | Identification | Infants | Cri du chat syndrome | Questionnaires | Chromosomes | Medical research | Activities of daily living | Cost assessments | Health care policy | Socio-economic aspects | Chromosome deletion | Chromosome 5 | Patients | Quality of life | Studies | Researchers | Health care expenditures | Economic impact | Quality assessment | Society | Index Medicus | rare diseases | quality of life | cost of illness | disability | Cri du Chat syndrome
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8. Full Text The Italian Registry for congenital anomalies: a tool for surveillance and primary prevention
by Taruscio, Domenica and Mantovani, Alberto and Salerno, Paolo and Granata, Orietta
Reproductive toxicology (Elmsford, N.Y.), ISSN 0890-6238, 09/2018, Volume 80, pp. 32 - 33
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9. Full Text The risk of re-identification versus the need to identify individuals in rare disease research
by Hansson, Mats G and Lochmüller, Hanns and Riess, Olaf and Schaefer, Franz and Orth, Michael and Rubinstein, Yaffa and Molster, Caron and Dawkins, Hugh and Taruscio, Domenica and Posada, Manuel and Woods, Simon
European journal of human genetics : EJHG, ISSN 1018-4813, 11/2016, Volume 24, Issue 11, pp. 1553 - 1558
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Privacy - ethics | Rare Diseases - genetics | Biomedical Research - ethics | Biomedical Research - legislation & jurisprudence | Genetic Testing - legislation & jurisprudence | Humans | Rare Diseases - diagnosis | Biomedical Research - methods | Genetic Privacy - legislation & jurisprudence | Genetic Testing - ethics | International Cooperation | Genetic Testing - methods | Medical research | Pediatrics | Personal health | Genomics | Bioethics | Patients | Privacy | Ethics | Social research | Identity theft | Consent | Genetics | Informatics | Public health | Personal information | Index Medicus
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10. Full Text Modeling delay to diagnosis for Amyotrophic lateral sclerosis: Under reporting and incidence estimates
by Rocchetti, Irene and Taruscio, Domenica and Pierannunzio, Daniela
BMC neurology, ISSN 1471-2377, 12/2012, Volume 12, Issue 1, pp. 160 - 160
Rare diseases | Reverse hazard | Incidence estimate | Delay to diagnosis | Horvitz-Thompson | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Models, Theoretical | Prevalence | Humans | Amyotrophic Lateral Sclerosis - diagnosis | Italy - epidemiology | Registries | Delayed Diagnosis | Amyotrophic Lateral Sclerosis - epidemiology | Incidence | Studies | Amyotrophic lateral sclerosis | Random variables | Disease | Estimates | Index Medicus
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11. Full Text The Role of Solidarity(-ies) in Rare Diseases Research
by Mascalzoni, Deborah and Petrini, Carlo and Taruscio, Domenica and Gainotti, Sabina
12/2017, Advances in Experimental Medicine and Biology, ISBN 9783319671420, Volume 1031
Biobanking | Patient associations | Reciprocity | Data sharing | Solidarity | Governance | International research
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12. One year in review 2020: economic and organisational aspects in rare and complex connective tissue diseases
by Cannizzo, Sara and Palla, Ilaria and Pirri, Salvatore and Triulzi, Isotta and Carta, Claudio and Taruscio, Domenica and Turchetti, Giuseppe
Clinical and experimental rheumatology, ISSN 0392-856X, 11/2020, Volume 38, Issue 6, p. 1037
Connective Tissue Diseases - diagnosis | Connective Tissue Diseases - therapy | Connective Tissue Diseases - epidemiology | Delivery of Health Care | Humans
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13. Full Text Meeting patients’ right to the correct diagnosis: Ongoing international initiatives on undiagnosed rare diseases and ethical and social issues
by Gainotti, Sabina and Mascalzoni, Deborah and Bros-Facer, Virginie and Petrini, Carlo and Floridia, Giovanna and Roos, Marco and Salvatore, Marco and Taruscio, Domenica
International journal of environmental research and public health, ISSN 1661-7827, 10/2018, Volume 15, Issue 10, p. 2072
Deep phenotyping | Genomic matchmaking | Undiagnosed rare diseases | Secondary findings | Diagnostic odyssey | Patient involvement | Next generation sequencing | Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Rare Diseases - genetics | Social Justice | Global Health | Humans | Rare Diseases - diagnosis | Genotype | International Cooperation | Patient Preference | Patient Rights - ethics | Delayed Diagnosis - ethics | Phenotype | Patient Participation - methods | Delayed Diagnosis - prevention & control | Databases, Factual | Index Medicus | genomic matchmaking | undiagnosed rare diseases | next generation sequencing | patient involvement | Review | secondary findings | diagnostic odyssey | deep phenotyping
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14. Full Text Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider
by Talarico, Rosaria and Marinello, Diana and Cannizzo, Sara and Gaglioti, Andrea and Ticciati, Simone and Carta, Claudio and Kodra, Yllka and Azadegan, Mojgan and Taruscio, Domenica and Mosca, Marta and Turchetti, Giuseppe
International journal of environmental research and public health, ISSN 1661-7827, 11/2020, Volume 17, Issue 22, p. 8694
Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | COVID-19 | Pandemics | Rare Diseases - therapy | Delivery of Health Care - organization & administration | Global Health | Humans | Emergencies | Rare Diseases - epidemiology | Index Medicus | rare diseases | health emergencies | healthcare organization | Review | organizational models | rare diseases networks | health policies
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15. Full Text Classification and codification of rare diseases
by Kodra, Yllka and Fantini, Bernardino and Taruscio, Domenica
Journal of clinical epidemiology, ISSN 0895-4356, 2012, Volume 65, Issue 9, pp. 1026 - 1027
Internal Medicine | Health Care Sciences & Services | Public, Environmental & Occupational Health | Life Sciences & Biomedicine | Science & Technology | Humans | International Classification of Diseases - standards | Rare Diseases - classification | Rare Diseases - diagnosis | Index Medicus
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16. Full Text Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance
by Burgard, P and Rupp, K and Lindner, M and Haege, G and Rigter, T and Weinreich, S.S and Loeber, J.G and Taruscio, D and Vittozzi, L and Cornel, M.C and Hoffmann, G.F
Journal of inherited metabolic disease, ISSN 0141-8955, 2012, Volume 35, Issue 4, pp. 613 - 625
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Public health. Hygiene-occupational medicine | Public health. Hygiene | Prevention and actions | Medical genetics | Biological and medical sciences | Metabolic diseases | Medical sciences | Therapeutics - economics | Therapeutics - methods | Prospective Studies | Therapeutics - standards | Follow-Up Studies | Infant, Newborn, Diseases - diagnosis | Europe | Humans | Parents | Infant, Newborn, Diseases - therapy | Neonatal Screening - methods | Time | Public Health - methods | Data Collection - methods | Neonatal Screening - standards | Neonatal Screening - economics | European Union | Surveys and Questionnaires | Public Health - standards | Infant, Newborn | Communication | Quality Control | Infants (Newborn) | Nursing | Universities and colleges | Medical screening | Analysis | Public health | Index Medicus
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