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Your search keyword '"Gardner, Eugene J"' showing total 172 results

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1. Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health

2. Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

3. Genetic links between ovarian ageing, cancer risk and de novo mutation rates

4. Genetic drivers and cellular selection of female mosaic X chromosome loss

5. Understanding the genetic complexity of puberty timing across the allele frequency spectrum

6. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

7. Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss

8. Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

9. Loss of transient receptor potential channel 5 causes obesity and postpartum depression

10. Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation

11. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

14. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

15. Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

18. Multi-platform discovery of haplotype-resolved structural variation in human genomes.

21. Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.

22. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

24. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

25. Population-Based Study of Rare Coding Variants in NR5A1/SF-1.

26. Population scale whole genome sequencing provides novel insights into cardiometabolic health

27. Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency

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29. An integrated map of structural variation in 2,504 human genomes.

30. Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency

31. Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

32. Protein-truncating variants in BSNare associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

33. Contribution of retrotransposition to developmental disorders

34. Protein-truncating variants inBSNare associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

35. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

36. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

37. Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

38. Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

39. Optimising diagnostic yield in highly penetrant genomic disease

41. The contribution of X-linked coding variation to severe developmental disorders

43. Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the aetiology of type 2 diabetes

44. Shared and distinct genetic etiologies for different types of clonal hematopoiesis

45. A global reference for human genetic variation

47. Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

49. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

50. The contribution of X-linked coding variation to severe developmental disorders

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