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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
- Published in:
- Molecular Medicine, 2015, v. 21, n. 1, p. 257, doi. 10.2119/molmed.2014.00229
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- Article
Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry.
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- Pediatric Pulmonology, 2019, v. 54, n. 2, p. 150, doi. 10.1002/ppul.24215
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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
The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 321, doi. 10.3390/diagnostics11020321
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- Article
Changes of acute-phase proteins, glucose, and lipid metabolism during pregnancy in lactating dairy cows.
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- Archives Animal Breeding / Archiv Tierzucht, 2022, v. 65, n. 3, p. 329, doi. 10.5194/aab-65-329-2022
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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
Impact of Heat Stress on the Balance between Oxidative Markers and the Antioxidant Defence System in the Plasma of Mid-Lactating Modicana Dairy Cows.
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- Animals (2076-2615), 2024, v. 14, n. 14, p. 2034, doi. 10.3390/ani14142034
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- Article
Effect of Breed on Hematological and Biochemical Parameters of Apparently Healthy Dogs Infected with Zoonotic Pathogens Endemic to the Mediterranean Basin.
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- Animals (2076-2615), 2024, v. 14, n. 11, p. 1516, doi. 10.3390/ani14111516
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- Article
Phenotypic and Genomic Characterization of the Comune di Sicilia Goat: Towards the Conservation of an Endangered Local Breed.
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- Animals (2076-2615), 2023, v. 13, n. 20, p. 3207, doi. 10.3390/ani13203207
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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
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
The Italian National Centre for Rare Diseases: where research and public health translate into action.
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- Blood Transfusion (17232007), 2014, v. 12, p. s591, doi. 10.2450/2014.0040-14s
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- Article
Perinatal outcomes in women with cystic fibrosis: Data from the Italian Cystic Fibrosis Registry.
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- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 8, p. 1439, doi. 10.1111/aogs.14190
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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
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
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- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 1, p. 49, doi. 10.1515/CCLM.2011.023
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- Article