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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
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
Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family.
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- Mammalian Genome, 2002, v. 13, n. 4, p. 216, doi. 10.1007/s00335-001-2118-7
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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
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
Streptococcus suis: a potential risk factor for salivary gland tumors?
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- International Journal of Biological Markers, 2011, v. 26, n. 4, p. 278, doi. 10.5301/JBM.2011.8882
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Vulnerability and ethical issues faced by general practitioners during the COVID-19 pandemic in Italy: some reflections and lessons learned.
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- Journal of Primary Health Care, 2021, v. 13, n. 2, p. 102, doi. 10.1071/HC20138
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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
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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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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Mapping of a human centromere onto the DNA by topoisomerase II cleavage.
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- EMBO Reports, 2000, v. 1, n. 6, p. 489, doi. 10.1093/embo-reports/kvd110
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- Article
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.
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- Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 2, p. 254, doi. 10.1515/CCLM.2007.053
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- Article
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
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- Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 8, p. 915, doi. 10.1515/CCLM.2004.148
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- Article
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
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- Clinical Genetics, 1995, v. 47, n. 1, p. 38, doi. 10.1111/j.1399-0004.1995.tb03919.x
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- Article
Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence.
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- Aging Cell, 2013, v. 12, n. 2, p. 312, doi. 10.1111/acel.12034
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- Article