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The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants.
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- Annali dell'Istituto Superiore di Sanita, 2023, v. 59, n. 4, p. 295, doi. 10.4415/ANN_23_04_09
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- Article
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02650-4
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- Article
Gender and burden differences in family caregivers of patients affected by ten rare diseases.
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- Annali dell'Istituto Superiore di Sanita, 2023, v. 59, n. 2, p. 122, doi. 10.4415/ANN_23_02_05
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- Article
Newborn screening in Italy: a unique program of public health in Europe.
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- Annali dell'Istituto Superiore di Sanita, 2023, v. 59, n. 1, p. 1, doi. 10.4415/ANN_23_01_01
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- Article
The National Italian Guidelines on the diagnosis and treatment of children with pediatric ataxias.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.971781
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- Article
The long journey of people with rare diseases: from darkness to the UN Resolution 2021.
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- Annali dell'Istituto Superiore di Sanita, 2022, v. 58, n. 2, p. 79, doi. 10.4415/ANN_22_02_01
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- Article
Adapting the World Health Organization rapid Assistive Technology Assessment (rATA) to the Italian context: implementation of a TRAPD-based approach.
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- Annali dell'Istituto Superiore di Sanita, 2022, v. 58, n. 2, p. 118, doi. 10.4415/ANN_22_02_07
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- Article
Technologies to Support Frailty, Disability, and Rare Diseases: Towards a Monitoring Experience during the COVID-19 Pandemic Emergency.
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- Healthcare (2227-9032), 2022, v. 10, n. 2, p. N.PAG, doi. 10.3390/healthcare10020235
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- Article
The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 22, p. 11968, doi. 10.3390/ijerph182211968
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- Article
Progress, challenges and global approaches to rare diseases.
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- Acta Paediatrica, 2021, v. 110, n. 10, p. 2711, doi. 10.1111/apa.15974
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- Article
Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry.
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- Pediatric Pulmonology, 2021, v. 56, n. 10, p. 3232, doi. 10.1002/ppul.25616
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- Article
Neurocutaneous syndromes in art and antiquities.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 224, doi. 10.1002/ajmg.c.31917
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- Article
CPMS–improving patient care in Europe via virtual case discussions.
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- Endocrine (1355008X), 2021, v. 71, n. 3, p. 549, doi. 10.1007/s12020-021-02628-x
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- Article
Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 3, p. 1101, doi. 10.3390/ijerph18031101
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- Article
Cystic fibrosis with non‐G551D gating mutations in Italy: Epidemiology and clinical characteristics.
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- Pediatric Pulmonology, 2021, v. 56, n. 2, p. 442, doi. 10.1002/ppul.25179
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- Article
Clinical characteristics of individuals with Down syndrome deceased with CoVID‐19 in Italy—A case series.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2964, doi. 10.1002/ajmg.a.61867
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- Article
The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 23, p. 8743, doi. 10.3390/ijerph17238743
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- Article
Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 22, p. 8694, doi. 10.3390/ijerph17228694
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- Article
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3122, doi. 10.1093/hmg/ddaa195
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- Article
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00883-8
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- Article
Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 16, p. 5951, doi. 10.3390/ijerph17165951
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- Article
Information needs of patient with rare diseases and their family caregivers on assistive technologies.
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- Life Span & Disability, 2020, v. 23, n. 1, p. 167
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- Article
Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 9, p. 3095, doi. 10.3390/ijerph17093095
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- Article
The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 9, p. 3196, doi. 10.3390/ijerph17093196
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- Article
Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort.
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- Annali dell'Istituto Superiore di Sanita, 2020, v. 56, n. 1, p. 48, doi. 10.4415/ANN_20_01_08
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- Article
Primary prevention as an essential factor ensuring sustainability of health systems: the example of congenital anomalies.
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- Annali dell'Istituto Superiore di Sanita, 2019, v. 55, n. 3, p. 258, doi. 10.4415/ANN_19_03_11
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- Article
Health systems sustainability in the framework of rare diseases actions. Actions on educational programmes and training for professionals and patients.
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- Annali dell'Istituto Superiore di Sanita, 2019, v. 55, n. 3, p. 265, doi. 10.4415/ANN_19_03_12
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- Article
Policies and actions to tackle rare diseases at European level.
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- Annali dell'Istituto Superiore di Sanita, 2019, v. 55, n. 3, p. 296, doi. 10.4415/ANN_19_03_17
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- Article
Preface.
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- Annali dell'Istituto Superiore di Sanita, 2019, v. 55, n. 3, p. 2549, doi. 10.4415/ANN_19_03_09
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- Article
Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy.
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- 2019
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- journal article
Strategies for eliciting and synthesizing evidence for guidelines in rare diseases.
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- 2019
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- Publication type:
- journal article
The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
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- Journal of Public Health, 2019, v. 41, n. 1, p. 46, doi. 10.1093/pubmed/fdx176
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- Article
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00723
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- Article
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
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- International Journal of Environmental Research & Public Health, 2018, v. 15, n. 10, p. 2072, doi. 10.3390/ijerph15102072
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- Article
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.
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- International Journal of Environmental Research & Public Health, 2018, v. 15, n. 7, p. 1470, doi. 10.3390/ijerph15071470
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- Article
The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.
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- Annali dell'Istituto Superiore di Sanita, 2018, v. 54, n. 2, p. 109, doi. 10.4415/ANN_18_02_06
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- Article
Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society.
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- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-017-0430-4
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- Article
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective.
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- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 21, doi. 10.1111/cts.12500
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- Article
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
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- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8327980
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- Article
Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison.
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- Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 4, p. 305, doi. 10.4415/ANN_17_04_06
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- Article
P4 Medicine versus Hippocrates.
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- Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 3, p. 185, doi. 10.4415/ANN_17_03_02
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- Publication type:
- Article
Reimbursed Price of Orphan Drugs: Current Strategies and Potential Improvements.
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- Public Health Genomics, 2017, v. 20, n. 1, p. 1, doi. 10.1159/000464100
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- Publication type:
- Article
Patient-physician alliance: from Hippocrates to Post-Genomic Era.
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- Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 2, p. 93, doi. 10.4415/ANN_17_02_02
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- Publication type:
- Article
Sustainable public health systems for rare diseases.
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- Annali dell'Istituto Superiore di Sanita, 2017, v. 53, n. 2, p. 170, doi. 10.4415/ANN_17_02_16
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- Article
Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.
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- Public Health Genomics, 2017, v. 19, n. 6, p. 352, doi. 10.1159/000449152
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- Article
Policies on Conflicts of Interest in Health Care Guideline Development: A Cross-Sectional Analysis.
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- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166485
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- Article
Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
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- Annali dell'Istituto Superiore di Sanita, 2016, v. 52, n. 3, p. 428, doi. 10.4415/ANN_16_03_15
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- Publication type:
- Article
Rare Diseases in Europe: From a Wide to a Local Perspective.
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- Israel Medical Association Journal, 2016, v. 18, n. 6, p. 359
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- Article
Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe.
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- 2016
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- Publication type:
- journal article
Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe.
- Published in:
- 2016
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- Publication type:
- journal article