128 results on '"Saris, Jasper J."'
Search Results
2. Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
3. Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III
4. Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
5. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
6. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
7. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma
8. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
9. Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
10. Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
11. High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
12. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
13. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
14. High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
15. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
16. RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
17. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
18. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
19. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
20. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
21. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
22. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders:evidence from SNP arrays
23. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
24. Identification and characterization of the tuberous sclerosis gene on chromosome 16
25. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
26. Prorenin Uptake in the Heart: a Prerequisite for Local Angiotensin Generation?
27. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
28. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
29. Erratum : Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)
30. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015)
31. High-affinity prorenin binding to cardiac man-6-P/IGF-II receptors precedes proteolytic activation to renin
32. Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
33. Next-generation sequencing-based genome diagnostics across clinical genetics centers : implementation choices and their effects
34. Erratum: Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)
35. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
36. Prorenin Induces Intracellular Signaling in Cardiomyocytes Independently of Angiotensin II
37. 77th Scientific Sessions of the American Heart Association
38. Prorenin-Induced Myocyte Proliferation
39. Prorenin Accumulation and Activation in Human Endothelial Cells
40. Cardiomyocytes Bind and Activate Native Human Prorenin
41. Cardiomyocytes Bind and Activate Renal But not Non-Renal Human Prorenin.
42. Functional Importance of Angiotensin-Converting Enzyme–Dependent In Situ Angiotensin II Generation in the Human Forearm
43. Cellular localization and tissue distribution of polycystin-1
44. Mutation Detection in the Repeated Part of the PKD1 Gene
45. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
46. Evaluation of a cosmid contig physical map of human chromosome 16
47. Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers
48. Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.
49. Is there a local renin—angiotensin system in the heart?
50. Cultured neonatal rat cardiac myocytes and fibroblasts do not synthesize renin or angiotensinogen.
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