136 results on '"Oud, Machteld M"'
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2. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
3. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
4. Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
5. Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
6. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
7. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
8. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
9. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
10. Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
11. Utilization of automated cilia analysis to characterize novel INPP5Evariants in patients with non-syndromic retinitis pigmentosa
12. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
13. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
14. Unraveling the human dendritic cell phagosome proteome by organellar enrichment ranking
15. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
16. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
17. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
18. Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes
19. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
20. NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum
21. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
22. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
23. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants inWDR35
24. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
25. CiliaCarta: An integrated and validated compendium of ciliary genes
26. CiliaCarta: An integrated and validated compendium of ciliary genes
27. CiliaCarta: An integrated and validated compendium of ciliary genes
28. CiliaCarta: An integrated and validated compendium of ciliary genes
29. CiliaCarta: An integrated and validated compendium of ciliary genes
30. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
31. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
32. The KOUNCIL Consortium : From Genetic Defects to Therapeutic Development for Nephronophthisis
33. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
34. Missense mutations in the WD40 domain ofAHI1cause non-syndromic retinitis pigmentosa
35. CiliaCarta: an integrated and validated compendium of ciliary genes
36. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
37. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
38. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
39. De novo 14q24.2q24.3 microdeletion includingIFT43is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
40. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
41. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
42. Early presentation of cystic kidneys in a family with a homozygous INVS mutation
43. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
44. Ciliopathies: Genetics in Pediatric Medicine
45. Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes
46. Dominant Processes during Human Dendritic Cell Maturation Revealed by Integration of Proteome and Transcriptome at the Pathway Level
47. TLR4-Mediated Podosome Loss Discriminates Gram-Negative from Gram-Positive Bacteria in Their Capacity to Induce Dendritic Cell Migration and Maturation
48. PGE2-mediated podosome loss in dendritic cells is dependent on actomyosin contraction downstream of the RhoA–Rho-kinase axis
49. Missense mutations in the WD40 domain of AHI1cause non-syndromic retinitis pigmentosa
50. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
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