257 results on '"Sol-Church, Katia"'
Search Results
2. HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia
3. Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk
4. Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brain
5. Investigating the impact of antibiotic-induced dysbiosis on protection from Clostridium difficile colitis by mouse colonic innate lymphoid cells
6. Characterization and comparison of innate and adaptive immune responses at vaccine sites in melanoma vaccine clinical trials
7. Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk
8. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
9. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR
10. Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of Research
11. Rigor, Reproducibility, and Transparency in Shared Research Resources: Follow-Up Survey and Recommendations for Improvements
12. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair
13. Deconvoluting sex-dependent dendritic cell-monocyte lineages in emphysematous lung tissue with bulk and single-cell RNA sequencing
14. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
15. Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat
16. Abstract 113: Cell-specific Chromatin Landscape Of Human Coronary Artery Resolves Mechanisms Of Disease Risk
17. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
18. A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: A Childrenʼs Oncology Group Phase I Consortium report
19. Cell-specific chromatin landscape of human coronary artery resolves regulatory mechanisms of disease risk
20. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
21. Rigor and Reproducibility in Shared Resources: ABRF Committee on Core Rigor and Reproducibility Survey Update
22. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
23. Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
24. Normative Growth Charts for Individuals With Costello Syndrome
25. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
26. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
27. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
28. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
29. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
30. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
31. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review
32. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
33. Incomplete Freund’s adjuvant reduces arginase and enhances Th1 dominance, TLR signaling and CD40 ligand expression in the vaccine site microenvironment
34. A Review of the Scientific Rigor, Reproducibility, and Transparency Studies Conducted by the ABRF Research Groups
35. Oligomeric amyloid beta prevents myelination in a clusterin-dependent manner
36. Living with Costello syndrome: Quality of life issues in older individuals
37. Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
38. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia
39. Male-to-Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father With Somatic Mosaicism
40. Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?
41. Longitudinal assessment of cognitive characteristics in Costello syndrome
42. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome
43. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
44. Somatic mosaicism for an HRAS mutation causes Costello syndrome
45. Failure of Shortening and Inversion of the Perinatal Gubernaculum in the Cryptorchid Long-Evans orl Rat
46. Paternal Bias in Parental Origin of HRAS Mutations in Costello Syndrome
47. HRAS Mutation Analysis in Costello Syndrome:: Genotype and Phenotype Correlation
48. Survey on Scientific Shared Resource Rigor and Reproducibility
49. Mycobacterium avium Complex Diversity within Lung Disease, as Revealed by Whole-Genome Sequencing
50. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
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