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Ann Saada

Showing results (141-150 of 144) with videos related to

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American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
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Showing results (141-150 of 144) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 144 results.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
Pageof 15