331 results on '"Jonasdottir, Aslaug"'
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2. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
3. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
4. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies
5. Genetic architecture of band neutrophil fraction in Iceland
6. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
7. Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
8. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
9. Differences between germline genomes of monozygotic twins
10. Molecular benchmarks of a SARS-CoV-2 epidemic
11. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis
12. Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
13. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
14. Multiple transmissions of de novo mutations in families
15. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
16. Data from Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
17. A population-based survey of FBN1variants in Iceland reveals underdiagnosis of Marfan syndrome
18. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
19. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndrome
20. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
21. A rare missense variant in NR1H4 associates with lower cholesterol levels
22. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
23. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
24. Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate
25. Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
26. A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
27. Author Correction: The rate of meiotic gene conversion varies by sex and age
28. Rare mutations associating with serum creatinine and chronic kidney disease
29. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
30. Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies
31. Rate of de novo mutations and the importance of father’s age to disease risk
32. Fine-scale recombination rate differences between sexes, populations and individuals
33. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma
34. Parental origin of sequence variants associated with complex diseases
35. Genetics of gene expression and its effect on disease
36. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
37. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
38. A genome wide linkage disequilibrium screen in Parkinson's disease
39. Humoral Immune Response to SARS-CoV-2 in Iceland
40. Spread of SARS-CoV-2 in the Icelandic Population
41. Early Spread of SARS-Cov-2 in the Icelandic Population
42. Large recurrent microdeletions associated with schizophrenia
43. A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease
44. A whole genome association study in multiple sclerosis patients from north Portugal
45. A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers
46. A genome-wide screen for association in Hungarian multiple sclerosis
47. Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
48. Data Descriptor: Whole genome characterization of sequence diversity of 15,220 Icelanders
49. Additional file 2: Table S1. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
50. Additional file 5: Table S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
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