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Carta, Claudio
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1

Building Expertise on FAIR Through Evolving Bring Your Own ..:

Bernabé, César H. ; Thielemans, Lieze ; Kaliyaperumal, Rajaram...
Data Intelligence.  6 (2024)  2 - p. 429-456 , 2024
Link: https://doi.org/10.1162/..
 
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2

A Resource for Guiding Data Stewards to Make European Rare ..:

van Damme, Philip ; Moreno, Pablo Alarcón ; Bernabé, César H....
Data Science Journal.  22 (2023)  - p. , 2023
Link: https://doi.org/10.5334/..
 
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3

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Resources and tools for rare disease variant interpretation:

Licata, Luana ; Via, Allegra ; Turina, Paola...
Frontiers in Molecular Biosciences.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Undiagnosed diseases: Needs and opportunities in 20 countri..:

Taruscio, Domenica ; Salvatore, Marco ; Lumaka, Aimè...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

An overlook on the current registries for rare and complex ..:

Bandeira, Matilde ; Di Cianni, Federica ; Marinello, Diana...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

Shaping the Future of Rare Diseases after a Global Health E..:

Talarico, Rosaria ; Marinello, Diana ; Cannizzo, Sara...
International Journal of Environmental Research and Public Health.  17 (2020)  22 - p. 8694 , 2020
Link: https://doi.org/10.3390/..
 
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8

Using adverse outcome pathways to identify exogenous risk f..:

Mantovani, Alberto ; Carta, Claudio ; Taruscio, Domenica..
Reproductive Toxicology.  88 (2019)  - p. 31-32 , 2019
Link: https://doi.org/10.1016/..
 
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9

Recommendations for Improving the Quality of Rare Disease R..:

Kodra, Yllka ; Weinbach, Jérôme ; Posada-de-la-Paz, Manuel...
International Journal of Environmental Research and Public Health.  15 (2018)  8 - p. 1644 , 2018
Link: https://doi.org/10.3390/..
 
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10

The RD-Connect Registry & Biobank Finder: a tool for sharin..:

Gainotti, Sabina ; Torreri, Paola ; Wang, Chiuhui Mary...
European Journal of Human Genetics.  26 (2018)  5 - p. 631-643 , 2018
Link: https://doi.org/10.1038/..
 
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11

The Italian project for surveillance prevention and health ..:

Taruscio, Domenica ; Salerno, Paolo ; Granata, Orietta...
European Journal of Medical Genetics.  61 (2018)  9 - p. 572 , 2018
Link: https://doi.org/10.1016/..
 
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12

Linked Registries: Connecting Rare Diseases Patient Registr..:

Sernadela, Pedro ; González-Castro, Lorena ; Carta, Claudio...
BioMed Research International.  2017 (2017)  - p. 1-13 , 2017
Link: https://doi.org/10.1155/..
 
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13

The Italian pilot external quality assessment program for c..:

Salvatore, Marco ; Floridia, Giovanna ; Amato, Annalisa...
Clinical Biochemistry.  49 (2016)  7-8 - p. 601-605 , 2016
Link: https://doi.org/10.1016/..
 
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14

Protracted late infantile ceroid lipofuscinosis due to TPP1..:

Di Giacopo, Raffaella ; Cianetti, Luciano ; Caputo, Viviana...
Journal of the Neurological Sciences.  356 (2015)  1-2 - p. 65-71 , 2015
Link: https://doi.org/10.1016/..
 
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15

A boy with Burkitt lymphoma associated with Noonan syndrome..:

Cianci, Paola ; Tono, Valentina ; Sala, Alessandra...
American Journal of Medical Genetics Part A.  161 (2013)  6 - p. 1401-1404 , 2013
Link: https://doi.org/10.1002/..
 
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