175 results on '"Arnadottir, Gudny A."'
Search Results
2. Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination
3. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
4. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
5. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
6. Sequence variants affecting the genome-wide rate of germline microsatellite mutations
7. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
8. Complex effects of sequence variants on lipid levels and coronary artery disease
9. Genetic architecture of band neutrophil fraction in Iceland
10. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
11. Large-scale integration of the plasma proteome with genetics and disease
12. Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
13. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
14. Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming
15. Differences between germline genomes of monozygotic twins
16. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis
17. Homozygosity for a stop-gain variant in CCDC201causes primary ovarian insufficiency
18. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
19. Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder
20. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
21. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
22. Multiple transmissions of de novo mutations in families
23. Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland
24. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
25. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
26. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease
27. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
28. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits
29. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
30. A rare missense variant in NR1H4 associates with lower cholesterol levels
31. A population-based survey of FBN1variants in Iceland reveals underdiagnosis of Marfan syndrome
32. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndrome
33. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
34. Sequence variants affect the genome-wide rate of germline microsatellite mutations
35. Unexplained sudden death: next-generation sequencing to the rescue?
36. Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR
37. Humoral Immune Response to SARS-CoV-2 in Iceland
38. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
39. popSTR2 enables clinical and population-scale genotyping of microsatellites
40. Sequence variants associating with urinary biomarkers
41. Data Descriptor: Whole genome characterization of sequence diversity of 15,220 Icelanders
42. Sequence variants associating with urinary biomarkers
43. Identification of Lynch syndrome risk variants in the Romanian population
44. Variants inNKX2-5andFLNCCause Dilated Cardiomyopathy and Sudden Cardiac Death
45. Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease
46. Recurrence of de novo mutations in families
47. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
48. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
49. Whole genome characterization of sequence diversity of 15,220 Icelanders
50. Sequence variant at 4q25 near PITX2 associates with appendicitis
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