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Stephanie L Austin

Showing results (11-20 of 25) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type IIIJennifer L Goldstein, Stephanie L Austin, Keri Boyette, et al.
Comparative Medicine|February 18, 2016
Natural Progression of Canine Glycogen Storage Disease Type IIIaElizabeth D Brooks, Haiqing Yi, Stephanie L Austin, et al.
Life (Basel, Switzerland)|September 16, 2020
Pregnancy Outcomes in Late Onset Pompe DiseaseOzlem Goker-Alpan, Vellore G Kasturi, Maninder K Sohi, et al.
Molecular Genetics and Metabolism|October 16, 2012
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIaJeffrey J Horvath, Stephanie L Austin, Harrison N Jones, et al.
Journal of Hepatology|July 15, 2009
Liver transplantation for glycogen storage disease type IaSrinevas K Reddy, Stephanie L Austin, Michele Spencer-Manzon, et al.
Muscle & Nerve|August 27, 2014
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe diseaseJeffrey J Horvath, Stephanie L Austin, Laura E Case, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2010
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over timeShawyntee M Vertilus, Stephanie L Austin, Kimberly S Foster, et al.
Journal of Inherited Metabolic Disease|August 13, 2017
PRKAG2 mutations presenting in infancyRachel D Torok, Stephanie L Austin, Chanika Phornphutkul, et al.
Neurology|June 11, 2020
Novel approaches to quantify CNS involvement in children with Pompe diseaseAditi Korlimarla, Gail A Spiridigliozzi, Kelly Crisp, et al.
Molecular Genetics and Metabolism Reports|November 25, 2021
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type IIIGhada Hijazi, Anna Paschall, Sarah P Young, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type IIIJennifer L Goldstein, Stephanie L Austin, Keri Boyette, et al.
Comparative Medicine|February 18, 2016
Natural Progression of Canine Glycogen Storage Disease Type IIIaElizabeth D Brooks, Haiqing Yi, Stephanie L Austin, et al.
Life (Basel, Switzerland)|September 16, 2020
Pregnancy Outcomes in Late Onset Pompe DiseaseOzlem Goker-Alpan, Vellore G Kasturi, Maninder K Sohi, et al.
Molecular Genetics and Metabolism|October 16, 2012
Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIaJeffrey J Horvath, Stephanie L Austin, Harrison N Jones, et al.
Journal of Hepatology|July 15, 2009
Liver transplantation for glycogen storage disease type IaSrinevas K Reddy, Stephanie L Austin, Michele Spencer-Manzon, et al.
Muscle & Nerve|August 27, 2014
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe diseaseJeffrey J Horvath, Stephanie L Austin, Laura E Case, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2010
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over timeShawyntee M Vertilus, Stephanie L Austin, Kimberly S Foster, et al.
Journal of Inherited Metabolic Disease|August 13, 2017
PRKAG2 mutations presenting in infancyRachel D Torok, Stephanie L Austin, Chanika Phornphutkul, et al.
Neurology|June 11, 2020
Novel approaches to quantify CNS involvement in children with Pompe diseaseAditi Korlimarla, Gail A Spiridigliozzi, Kelly Crisp, et al.
Molecular Genetics and Metabolism Reports|November 25, 2021
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type IIIGhada Hijazi, Anna Paschall, Sarah P Young, et al.
Pageof 3