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96 results on '"Gasparini, Paolo"'

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

2. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

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

4. Relationship between clone metrics and clinical outcome in clonal cytopenia

5. Relationship between clone metrics and clinical outcome in clonal cytopenia

6. Differences in taste and smell perception between type 2 diabetes mellitus patients and healthy controls.

7. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

8. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

9. Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

10. A bird’s-eye view of Italian genomic variation through whole-genome sequencing

11. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

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

13. A catalog of genetic loci associated with kidney function from analyses of a million individuals

14. Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

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

16. TBL1Y: a new gene involved in syndromic hearing loss

17. Next-generation sequencing identified SPATC1Las a possible candidate gene for both early-onset and age-related hearing loss

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

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

20. Multi-hazard risk pathway scenarios associated with unconventional gas development: Identification and challenges for their assessment.

21. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

22. Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

23. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

24. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

25. 19p13 microduplications encompassing NFIXare responsible for intellectual disability, short stature and small head circumference

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

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

28. A novel founder MYO15Aframeshift duplication is the major cause of genetic hearing loss in Oman

29. Genome-wide analysis identifies 12 loci influencing human reproductive behavior

30. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

31. A reference panel of 64,976 haplotypes for genotype imputation

32. Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

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

34. Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

35. 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

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

38. A Bayesian procedure for Probabilistic Tsunami Hazard Assessment

39. Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island populationHow to cite this article: Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, dAdamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, GiannouliaKarantana A, Renieri A, Zeviani M, Petersen MB. 2008. Cohen syndrome resulting from a novel large intragenic COH1deletion segregating in an isolated Greek island population. Am J Med Genet Part A 146A:2221–2226.

40. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

41. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

42. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3

43. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3

44. Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

45. Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

47. Transforming Growth Factor‐β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women

48. Transforming Growth Factor‐β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women

49. Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia

50. Recombinant Families Locate the Gene for Non-Type I Cystinuria between Markers C13and D19S587on Chromosome 19q13.1

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