17 results on '"Picci, Luigi"'
Search Results
2. Evidence for an association between migraine and the hypocretin receptor 1 gene
3. Association between carrier screening and incidence of cystic fibrosis
4. TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis
5. Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility
6. Screening for cystic fibrosis gene mutations by multiplex DNA amplification
7. Linkage analysis of neurofibromatosis type 1: Study of a homogeneous North Italian population with five DNA markers of chromosome 17
8. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening
9. Association between Major Mood Disorders and the hypocretin receptor 1 gene
10. Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay
11. A 10-year large-scale cystic fibrosis carrier screening in the Italian population
12. Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism
13. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers
14. Detection of Five Rare Cystic Fibrosis Mutations Peculiar to Southern Italy: Implications in Screening for the Disease and Phenotype Characterization for Patients with Homozygote Mutations
15. A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy
16. Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement
17. Development and characterization of a binary gene expression system based on bacteriophage T7 components in adenovirus vectors
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