35 results on '"Nicolaou, Nayia"'
Search Results
2. Persistent generalized Grover disease: complete remission after treatment with oral acitretin
3. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
4. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
5. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
6. Genetic, environmental, and epigenetic factors involved in CAKUT
7. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
8. Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
9. Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk
10. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinsonʼs disease
11. Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinsonʼs disease
12. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
13. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
14. Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation
15. Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$ PAX 6 regulatory enhancers: case report and review of the literature
16. Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome
17. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
18. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
19. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
20. De novo 14q24.2q24.3 microdeletion includingIFT43is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
21. Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
22. Functional Models for Congenital Anomalies of the Kidney and Urinary Tract
23. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
24. Genetic, environmental, and epigenetic factors involved in CAKUT
25. Functional Models for Congenital Anomalies of the Kidney and Urinary Tract
26. Corrigendum to “Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.” [Neurobiol. Aging 35 (2014) 1514.e1–1514.e12]
27. Functional Models for Congenital Anomalies of the Kidney and Urinary Tract
28. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease
29. Novel TBX3mutation in a family of Cypriot ancestry with ulnar-mammary syndrome
30. Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$ PAX 6 regulatory enhancers: case report and review of the literature
31. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
32. Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.
33. C9orf72 repeat expansions in patients with ALS and FTD
34. Functional models for congenital anomalies of the kidney and urinary tract.
35. Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
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