302 results on '"Schanze, Denny"'
Search Results
2. Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice
3. Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery: a proof-of-principle study
4. Bifidobacteria shape antimicrobial T-helper cell responses during infancy and adulthood
5. Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues
6. Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer
7. C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
8. KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
9. Differential methylation of OPRK1 in borderline personality disorder is associated with childhood trauma
10. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
11. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
12. Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
13. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
14. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
15. Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.
16. Somatic RIT1 indels identified in arteriovenous malformations hyperactivate RAS-MAPK signaling and are amenable to MEK inhibition
17. Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
18. Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays
19. Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
20. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
21. Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature
22. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
23. Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
24. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
25. RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.
26. Differential methylation of OPRK1in borderline personality disorder is associated with childhood trauma
27. Happle‐Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases
28. Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
29. Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
30. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
31. The Accelerating Importance of Data Science in Remediation
32. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
33. Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo
34. Tu1561: GUT MICROBIAL SIMILARITY IN TWINS IS PREDOMINANTLY DETERMINED BY SHARED ENVIRONMENT AND AGING
35. Gut microbial similarity in twins is driven by shared environment and aging
36. Profiling of the Bacterial Microbiota along the Murine Alimentary Tract
37. Alteration of myocardial structure and function in RAF1-associated Noonan syndrome: Insights from cardiac disease modeling based on patient-derived iPSCs
38. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
39. Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgery
40. A Cryptic Unbalanced Translocation Der(4)t(4;17)(p16.1;q25.3) Identifies Wittwer Syndrome As a Variant of Wolf-Hirschhorn Syndrome
41. Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos
42. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome
43. Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum
44. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders
45. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
46. Requirements analysis and specification for a molecular tumor board platform based on cBioPortal
47. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
48. Sa1930 ALTERATIONS IN MICROBIOME FROM BILIARY STENTS IN PATIENTS WITH BILIARY DUCT DISEASES.
49. 364 MUCOSAL MICROBIOME IS LINKED TO WORSE PROGNOSIS IN GASTRIC CANCER PATIENTS
50. Mutations in GRIP1 cause Fraser syndrome
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