159 results on '"van der Ven, A. T."'
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2. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
3. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
4. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
6. Monogenic causes of chronic kidney disease in adults
7. Head skeleton malformations in zebrafish (Danio rerio) to assess adverse effects of mixtures of compounds
8. Advillin acts upstream of phospholipase C [epsilon]1 in steroid-resistant nephrotic syndrome
9. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases
10. A homozygous truncatingETV4variant in a Nigerian family with congenital anomalies of the kidney and urinary tract
11. Programming of metabolic effects in C57BL/6JxFVB mice by in utero and lactational exposure to perfluorooctanoic acid
12. Prioritization of chemicals in food for risk assessment by integrating exposure estimates and new approach methodologies: A next generation risk assessment case study
13. Developmental effects of aerosols and coal burning particles in zebrafish embryos
14. Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome
15. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
16. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
17. The Parallelogram Approach to Assess Human Relevance of Toxicogenomics-derived Toxicity Pathways in Human Health Risk Assessment
18. Mechanisms of amiodarone and valproic acid induced liver steatosis in mouse in vivo act as a template for other hepatotoxicity models
19. Exploring the zebrafish embryo as an alternative model for the evaluation of liver toxicity by histopathology and expression profiling
20. Exploring Neurobehaviour in Zebrafish Embryos as a Screening Model for Addictiveness of Substances
21. Toxicity of tetrabromobisphenol A (TBBPA) in zebrafish (Danio rerio) in a partial life-cycle test
22. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
23. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
24. Concentration-Response Analysis of Differential Gene Expression in the Zebrafish Embryotoxicity Test Following Flusilazole Exposure
25. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
26. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
27. Auditory Effects of Developmental Exposure to Purity-Controlled Polychlorinated Biphenyls (PCB52 and PCB180) in Rats
28. Practical Application of Next Generation Risk Assessment of Chemicals for Human Health
29. A Case Study with Triazole Fungicides to Explore Practical Application of Next-Generation Hazard Assessment Methods for Human Health
30. Dose Addition in the Induction of Craniofacial Malformations in Zebrafish Embryos Exposed to a Complex Mixture of Food-Relevant Chemicals with Dissimilar Modes of Action.
31. Expression of insulin-like growth factor II (IGF-II) and histological changes in the thymus and spleen of transgenic mice overexpressing IGF-II
32. A 28-Day Oral Dose Toxicity Study Enhanced to Detect Endocrine Effects of Hexabromocyclododecane in Wistar Rats
33. Meningioma phospholipid profiles measured by31P nuclear magnetic resonance spectroscopy
34. Growth of mycoplasma transformed tTN129 cells depends on IGF-I
35. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
36. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
37. Analysis of Lipid Metabolism, Immune Function, and Neurobehavior in Adult C57BL/6JxFVB Mice After Developmental Exposure to di (2-ethylhexyl) Phthalate
38. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
39. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
40. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
41. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
42. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
43. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxy
44. Analysis of Lipid Metabolism, Immune Function, and Neurobehavior in Adult C57BL/6JxFVB Mice After Developmental Exposure to di (2-ethylhexyl) Phthalate
45. Advillin acts upstream of phospholipase C is an element of 1 in steroid-resistant nephrotic syndrome
46. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
47. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
48. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
49. Methylene Blue (Tetramethylthionine Chloride) Influences the Mobility of Adult Neural Stem Cells: A Potentially Novel Therapeutic Mechanism of a Therapeutic Approach in the Treatment of Alzheimer’s Disease
50. De novo variants in RNF213are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
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