281 results on '"Kim, Cecilia E."'
Search Results
2. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
3. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
4. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival
5. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
6. Rare variants at 16p11.2 are associated with common variable immunodeficiency
7. Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism
8. Strong synaptic transmission impact by copy number variations in schizophrenia
9. Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism
10. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions
11. Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations
12. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
13. A genome-wide study reveals copy number variants exclusive to childhood obesity cases
14. Variants of DENND1B associated with asthma in children
15. Common genetic variants on 5p14.1 associate with autism spectrum disorders
16. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
17. Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn’s Disease
18. Methylation microarray studies of biliary atresia livers uncover potential role for platelet-derived growth factor (PDGF): 1271
19. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
20. Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI
21. Variants of DENND1B Associated with Asthma in Children
22. A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
23. Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene
24. 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry
25. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
26. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes
27. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry
28. Association of the TRAF1–C5 locus on chromosome 9 with juvenile idiopathic arthritis
29. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
30. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
31. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease
32. Genome-wide association identifies diverse causes of common variable immunodeficiency
33. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature
34. First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes
35. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (Scientific Reports (2017) 7 (3847) DOI: 10.1038/s41598-017-01674-8)
36. Warrantless searches and seizures.
37. Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects
38. Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
39. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
40. Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
41. The Soldier and the Animal: metaphor in maintenance of antiretroviral adherence in Ghana’s Eastern Region
42. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study
43. Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
44. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
45. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism
46. Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease
47. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility
48. Genetic sharing and heritability of paediatric age of onset autoimmune diseases.
49. Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.
50. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height (vol 88, pg 6, 2010)
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