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90 results on '"Gasparini, Paolo"'

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1. Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure

2. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

3. Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies

5. Combined influence of TAS2R38 genotype and PROP phenotype on the intensity of basic tastes, astringency and pungency in the Italian taste project

6. Taste perception and expression in stomach of bitter taste receptor tas2r38 in obese and lean subjects

9. Dietary Macronutrient Composition in Relation to Circulating HDL and Non-HDL Cholesterol: A Federated Individual-Level Analysis of Cross-Sectional Data from Adolescents and Adults in 8 European Studies

10. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

13. COVID-19 Experience: First Italian Survey on Healthcare Staff Members from a Mother-Child Research Hospital Using Combined Molecular and Rapid Immunoassay Tests

14. Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

16. IBS clinical management in Italy: The AIGO survey

17. Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

18. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

19. Joint Data Analysis in Nutritional Epidemiology: Identification of Observational Studies and Minimal Requirements

20. The ARGO Project: assessing NA-TECH risks on offshore oil platforms

22. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

23. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

26. 52 Genetic Loci Influencing Myocardial Mass

32. Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

33. Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

34. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

35. A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

40. Are MYO1C and MYO1F associated with hearing loss?

45. Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

46. Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

47. Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

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