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Your search keyword '"Lonneke de Boer"' showing total 9 results

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9 results on '"Lonneke de Boer"'

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1. The role of clinical response to treatment in determining pathogenicity of genomic variants

2. NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

3. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

4. Mutations in TBR1 gene leads to cortical malformations and intellectual disability

5. Radboud Centre for Mitochondrial Medicine Pediatric MRI score

6. International Paediatric Mitochondrial Disease Scale

7. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

8. Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations

9. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

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