227 results on '"Van Coster, Rudy"'
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2. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
3. Nonketotic Hyperglycinaemia Nonketotic Hyperglycinaemia Hyperglycinaemia nonketotic and Lipoate Deficiency Disorders Lipoate Deficiency Disorders
4. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
5. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
6. The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
7. IRF2BPL Is Associated with Neurological Phenotypes
8. Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
9. Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders
10. Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder
11. Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
12. mTOR Inhibition Enhances Delivery and Activity of Antisense Oligonucleotides in Uveal Melanoma Cells
13. Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT
14. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
15. Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
16. Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression
17. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
18. Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
19. Neonatal lactic acidosis explained by LARS2 defect
20. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
21. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
22. TMEM70 deficiency: long-term outcome of 48 patients
23. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
24. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
25. Additional file 2 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
26. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
27. Expanded phenotyping by microscopic imaging
28. Additional file 1 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
29. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
30. Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
31. mTOR inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells
32. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
33. The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
34. Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
35. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
36. Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)
37. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
38. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
39. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
40. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
41. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
42. Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
43. Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
44. Recurrent arterial ischemic stroke with good response to mycophenolate mofetil
45. Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients
46. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
47. Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
48. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients
49. The use of pronuclear transfer to overcome infertility disorders in mice
50. Research activity and capability in the European reference network MetabERN
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