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Your search keyword '"Freisinger, Peter"' showing total 16 results

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16 results on '"Freisinger, Peter"'

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1. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

2. Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

3. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

4. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

6. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

7. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

8. Genetic diagnosis of Mendelian disorders via RNA sequencing

9. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

10. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

11. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

12. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

14. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

16. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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