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1,320 results on '"Gasparini, Paolo"'

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1. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

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

3. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

4. A saturated map of common genetic variants associated with human height

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

6. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

7. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

8. Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies

11. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

12. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

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

15. Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal

18. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

23. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

24. Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

26. Associations of autozygosity with a broad range of human phenotypes

27. Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

29. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

30. Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

32. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

33. Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

35. High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis

38. Genome-wide association study identifies 74 loci associated with educational attainment

39. Impact of cultural and genetic structure on food choices along the Silk Road

40. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

41. Rare and low-frequency coding variants alter human adult height

42. Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways.

43. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

44. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

46. Additional file 1 of Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population

47. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

48. Altered Taste Function in Young Individuals With Type 1 Diabetes

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