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70 results on '"Donkervoort, Sandra"'

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1. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

2. Antibiotic prophylaxis for acute cholecystectomy: PEANUTS II multicentre randomized non-inferiority clinical trial

3. Antibiotic prophylaxis for acute cholecystectomy: PEANUTS II multicentre randomized non-inferiority clinical trial

4. Antibiotic prophylaxis for acute cholecystectomy: PEANUTS II multicentre randomized non-inferiority clinical trial

5. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

6. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

7. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

8. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

9. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

10. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

11. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

12. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

13. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

14. Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

15. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

16. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

17. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

18. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

19. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

20. An ultrafast system for signaling mechanical pain in human skin

21. An ultrafast system for signaling mechanical pain in human skin

22. An ultrafast system for signaling mechanical pain in human skin

23. An ultrafast system for signaling mechanical pain in human skin

24. An ultrafast system for signaling mechanical pain in human skin

26. Restrictive strategy versus usual care for cholecystectomy in patients with gallstones and abdominal pain (SECURE): a multicentre, randomised, parallel-arm, non-inferiority trial

27. Restrictive strategy versus usual care for cholecystectomy in patients with gallstones and abdominal pain (SECURE): a multicentre, randomised, parallel-arm, non-inferiority trial

28. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

29. Dominant collagen XII mutations cause a distal myopathy

30. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

31. An ultrafast system for signaling mechanical pain in human skin

33. Restrictive strategy versus usual care for cholecystectomy in patients with gallstones and abdominal pain (SECURE): a multicentre, randomised, parallel-arm, non-inferiority trial

34. Restrictive strategy versus usual care for cholecystectomy in patients with gallstones and abdominal pain (SECURE): a multicentre, randomised, parallel-arm, non-inferiority trial

36. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.

37. An ultrafast system for signaling mechanical pain in human skin

38. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

39. Dominant collagen XII mutations cause a distal myopathy

40. An ultrafast system for signaling mechanical pain in human skin

41. An ultrafast system for signaling mechanical pain in human skin

42. Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy

43. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

44. An ultrafast system for signaling mechanical pain in human skin

45. An ultrafast system for signaling mechanical pain in human skin

46. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

47. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

48. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

49. Congenital Titinopathy:Comprehensive characterization and pathogenic insights

50. Congenital Titinopathy:Comprehensive characterization and pathogenic insights

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