648 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. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
20. Neonatal lactic acidosis explained by LARS2 defect
21. Automated Nanoflow Liquid Chromatography/Tandem Mass Spectrometric Identification of Liver Mitochondrial Proteins
22. Sensory Contributions to Balance in Boys with Developmental Coordination Disorder
23. Unraveling the Mechanisms Behind the Enhanced MTT Conversion by Irradiated Breast Cancer Cells
24. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
25. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
26. TMEM70 deficiency: long-term outcome of 48 patients
27. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
28. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
29. Additional file 2 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
30. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
31. Expanded phenotyping by microscopic imaging
32. Additional file 1 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
33. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
34. Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
35. mTOR inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells
36. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
37. The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
38. Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
39. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
40. Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)
41. Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
42. Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis
43. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
44. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
45. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
46. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
47. Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise
48. Complex III staining in blue native polyacrylamide gels
49. Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia
50. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
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