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Heidi Peters

Showing results (31-40 of 35) with videos related to

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Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Pageof 4

Showing results (31-40 of 35) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 35 results.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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