30 results on '"de Boer, Lonneke"'
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2. Isolated Mitochondrial Complex Deficiencies
3. A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms (“KHENERGYC”)
4. Cognitive functioning and mental health in children with a primary mitochondrial disease
5. The role of clinical response to treatment in determining pathogenicity of genomic variants
6. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
7. Mutations in TBR1 gene leads to cortical malformations and intellectual disability
8. Using PRPP‐Assessment for measuring change in everyday activities by home‐based videos: An exploratory case series study in children with multiple disabilities.
9. Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study
10. Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects
11. Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
12. International Paediatric Mitochondrial Disease Scale
13. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
14. Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
15. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
16. Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
17. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
18. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
19. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
20. Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations
21. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
22. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
23. Quantification of gait in children with mitochondrial disease
24. Radboud Centre for Mitochondrial Medicine Pediatric MRI score
25. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
26. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
27. Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome
28. Increased Levels and Pulsatility of Follicle-Stimulating Hormone in Mothers of Hereditary Dizygotic Twins1
29. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
30. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
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