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The Italian National Centre for Rare Diseases: where research and public health translate into actionA large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup NMany paths to the top of the mountain: diverse evolutionary solutions to centromere structure.Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors.The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.A new polymorphism in the flanking region of human VAMP2 and hPer1 genes.Organization and integration sites in the human genome of endogenous retroviral sequences belonging to HERV-E family.Three cases of rare salivary gland tumours: a molecular study of TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes.Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison.The Italian external quality assessment scheme in classical cytogenetics: four years of activity.D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.Streptococcus Suis: A Potential Risk Factor for Salivary Gland Tumors?The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year SurveyQuality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality AssuranceMeeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social IssuesA neocentromere in the DAZ region of the human Y chromosomeColocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eelsThe Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteriaOrgan Transplantation From Nonstandard Risk Donors: Midway Between Rigid and Flexible RulesFrom Experimental Technique to Clinical Practice: Which Pathway in Transplant Surgery?The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?
P50
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P50
description
researcher ORCID ID = 0000-0003-4187-8816
@en
wetenschapper
@nl
name
Giovanna Floridia
@ast
Giovanna Floridia
@en
Giovanna Floridia
@es
Giovanna Floridia
@nl
type
label
Giovanna Floridia
@ast
Giovanna Floridia
@en
Giovanna Floridia
@es
Giovanna Floridia
@nl
prefLabel
Giovanna Floridia
@ast
Giovanna Floridia
@en
Giovanna Floridia
@es
Giovanna Floridia
@nl
P106
P21
P31
P496
0000-0003-4187-8816