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2. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

3. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

5. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

6. Evolutionary conservation of the fidelity of transcription

10. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

12. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

16. Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

22. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination

25. Design of a Multi-Center Randomized Active Controlled Phase 3 Clinical Trial (HURCULES) Evaluating the Safety and Efficacy of OTL-203 in Patients with MPS-IH Versus Standard of Care with Allogeneic Hematopoietic Stem Cell Transplantation

27. Design of a multi-center randomized active controlled phase 3 clinical trial (HURCULES) evaluating the safety and efficacy of OTL-203 in patients with MPS IH versus standard of care with allogeneic hematopoietic stem cell transplantation

28. UPLC-Orbitrap-HRMS application for analysis of plasma sterols

29. A context-based approach to unravel Variants of (Uncertain) Significance

30. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy

31. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

32. High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

33. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination

34. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

35. Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

36. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

38. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

40. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

41. Aminoacyl-tRNA synthetase deficiencies in search of common themes

42. Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

45. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

47. Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

48. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

49. Macrocephaly and developmental delay caused by missense variants in RAB5C

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