Detalhe da pesquisa
1.
[Italian Cystic Fibrosis Registry (ICFR). Report 2021-2022]. / Registro Italiano Fibrosi Cistica (RIFC). Rapporto 2021-2022.
Epidemiol Prev
; 48(2 Suppl 2): 1-41, 2024.
Artigo
Italiano
| MEDLINE | ID: mdl-38742380
2.
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Hum Mol Genet
; 29(18): 3122-3131, 2020 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32959051
3.
[Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2019-2020.
Epidemiol Prev
; 46(4 Suppl 2): 1-38, 2022.
Artigo
Italiano
| MEDLINE | ID: mdl-36102313
4.
Neurocutaneous syndromes in art and antiquities.
Am J Med Genet C Semin Med Genet
; 187(2): 224-234, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34013593
5.
Progress, challenges and global approaches to rare diseases.
Acta Paediatr
; 110(10): 2711-2716, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34105798
6.
Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?
Medicina (Kaunas)
; 57(2)2021 Jan 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33525390
7.
[Italian Cystic Fibrosis Registry (ICFR). Report 2017-2018]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2017-2018.
Epidemiol Prev
; 45(3 Suppl 1): 1-37, 2021.
Artigo
Italiano
| MEDLINE | ID: mdl-34132083
8.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Am J Hum Genet
; 100(5): 695-705, 2017 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28475856
9.
Clinical characteristics of individuals with Down syndrome deceased with CoVID-19 in Italy-A case series.
Am J Med Genet A
; 182(12): 2964-2970, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32918520
10.
One year in review 2020: economic and organisational aspects in rare and complex connective tissue diseases.
Clin Exp Rheumatol
; 38(6): 1037-1045, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33242303
11.
Strategies for eliciting and synthesizing evidence for guidelines in rare diseases.
BMC Med Res Methodol
; 19(1): 67, 2019 03 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30922227
12.
The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
J Public Health (Oxf)
; 41(1): 46-54, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29294017
13.
[Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016]. / Registro italiano Fibrosi Cistica (RIFC). Rapporto 2015-2016.
Epidemiol Prev
; 43(4S1): 1-36, 2019.
Artigo
Italiano
| MEDLINE | ID: mdl-31370382
14.
[Italian Cystic Fibrosis Registry. Report 2011-2014]. / Registro italiano Fibrosi Cistica. Rapporto 2011-2014.
Epidemiol Prev
; 42(1S1): 1-32, 2018.
Artigo
Italiano
| MEDLINE | ID: mdl-29506377
15.
Sharing good practice in rare diseases: the experience of an innovative hybrid laboratory of narrative medicine and narrative psychology for patients and caregivers living with Behçet's disease.
Clin Exp Rheumatol
; 40(8): 1609, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36106539
16.
The Role of Solidarity(-ies) in Rare Diseases Research.
Adv Exp Med Biol
; 1031: 589-604, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214593
17.
Health Systems Sustainability and Rare Diseases.
Adv Exp Med Biol
; 1031: 629-640, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214595
18.
Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.
Adv Exp Med Biol
; 1031: 25-38, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214564
19.
Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases.
Adv Exp Med Biol
; 1031: 301-322, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214580
20.
Data Quality in Rare Diseases Registries.
Adv Exp Med Biol
; 1031: 149-164, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214570