Search research articles
Contact Us
Filters
Showing results (31-40 of 35) with videos related to
Page
of 4
Sort By:
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 diseases
Daniella 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 Study
Francjan 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 variants
Georg 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 variants
Georg 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 deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 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 diseases
Daniella 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 Study
Francjan 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 variants
Georg 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 variants
Georg 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 deficiency
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Page
of 4