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E Prada

Showing results (91-100 of 155) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2012
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationshipsKristen Lipscomb Sund, Sarah L Zimmerman, Cameron Thomas, et al.
Chembiochem : a European Journal of Chemical Biology|May 7, 2014
Resveratrol and its metabolites bind to PPARsE Calleri, G Pochetti, K S S Dossou, et al.
American Journal of Physiology. Renal Physiology|January 30, 2003
Expression of SSAT, a novel biomarker of tubular cell damage, increases in kidney ischemia-reperfusion injuryKamyar Zahedi, Zhaohui Wang, Sharon Barone, et al.
Neurocirugia (Asturias, Spain)|November 16, 2006
[Giant arteriovenous malformation of the scalp. Case report]M García-Conde, L Martín-Viota, P Febles-García, et al.
European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Pediatrics|July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathyCarlos E Prada, John L Jefferies, Michelle A Grenier, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Pediatric Neurology|March 30, 2023
Motor Function and Physiology in Youth With Neurofibromatosis Type 1Alexander C Doherty, David A Huddleston, Paul S Horn, et al.
Pediatric Neurology|May 22, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1Donald L Gilbert, Lindsey E Aschbacher-Smith, Karlee Y Migneault, et al.
Molecular Genetics and Metabolism|June 4, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysisErika R Vucko, Katie Arduini, Karen Becker, et al.
Pageof 16

Showing results (91-100 of 155) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2012
Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationshipsKristen Lipscomb Sund, Sarah L Zimmerman, Cameron Thomas, et al.
Chembiochem : a European Journal of Chemical Biology|May 7, 2014
Resveratrol and its metabolites bind to PPARsE Calleri, G Pochetti, K S S Dossou, et al.
American Journal of Physiology. Renal Physiology|January 30, 2003
Expression of SSAT, a novel biomarker of tubular cell damage, increases in kidney ischemia-reperfusion injuryKamyar Zahedi, Zhaohui Wang, Sharon Barone, et al.
Neurocirugia (Asturias, Spain)|November 16, 2006
[Giant arteriovenous malformation of the scalp. Case report]M García-Conde, L Martín-Viota, P Febles-García, et al.
European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Pediatrics|July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathyCarlos E Prada, John L Jefferies, Michelle A Grenier, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in femalesKathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Pediatric Neurology|March 30, 2023
Motor Function and Physiology in Youth With Neurofibromatosis Type 1Alexander C Doherty, David A Huddleston, Paul S Horn, et al.
Pediatric Neurology|May 22, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1Donald L Gilbert, Lindsey E Aschbacher-Smith, Karlee Y Migneault, et al.
Molecular Genetics and Metabolism|June 4, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysisErika R Vucko, Katie Arduini, Karen Becker, et al.
Pageof 16