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Bruce A Barshop

Showing results (61-70 of 67) with videos related to

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Journal of the American Society of Nephrology : JASN|August 17, 2013
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney diseaseKumar Sharma, Bethany Karl, Anna V Mathew, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
Journal of Medical Genetics|November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Pediatric Neurology|November 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
Journal of the American Society of Nephrology : JASN|August 17, 2013
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney diseaseKumar Sharma, Bethany Karl, Anna V Mathew, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
Journal of Medical Genetics|November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
Pediatric Neurology|November 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyJudith S Miller, Cristan Farmer, Susan Blair, et al.
Pageof 7