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Stephanie Austin

Showing results (1-10 of 34) with videos related to

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Ear, Nose, & Throat Journal|February 18, 2011
Vocal fold varicositiesStephanie Austin, Venu Divi, Mary Hawkshaw, et al.
Molecular Genetics and Metabolism Reports|October 18, 2016
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IVHaiqing Yi, Fengqin Gao, Stephanie Austin, et al.
American Journal of Medical Genetics. Part A|May 5, 2016
Death from supine asphyxia in late onset pompe disease: Two patientsSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
JIMD Reports|November 6, 2015
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseDivya Ajay, Erin R McNamara, Stephanie Austin, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Polysomnographic findings in infantile Pompe diseaseSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
Longitudinal polysomnographic findings in infantile Pompe diseaseSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
World Journal of Clinical Cases|February 15, 2021
"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reportsFederica Vernuccio, Stephanie Austin, Mathias Meyer, et al.
Molecular Genetics and Metabolism|May 13, 2017
Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-upGail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, et al.
American Journal of Medical Genetics. Part A|August 2, 2017
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Paul McIntosh, Stephanie Austin, Jennifer Sullivan, et al.
JIMD Reports|January 24, 2015
Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe diseaseErin R McNamara, Stephanie Austin, Laura Case, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Ear, Nose, & Throat Journal|February 18, 2011
Vocal fold varicositiesStephanie Austin, Venu Divi, Mary Hawkshaw, et al.
Molecular Genetics and Metabolism Reports|October 18, 2016
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IVHaiqing Yi, Fengqin Gao, Stephanie Austin, et al.
American Journal of Medical Genetics. Part A|May 5, 2016
Death from supine asphyxia in late onset pompe disease: Two patientsSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
JIMD Reports|November 6, 2015
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseDivya Ajay, Erin R McNamara, Stephanie Austin, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Polysomnographic findings in infantile Pompe diseaseSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
Longitudinal polysomnographic findings in infantile Pompe diseaseSujay Kansagra, Stephanie Austin, Stephanie DeArmey, et al.
World Journal of Clinical Cases|February 15, 2021
"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reportsFederica Vernuccio, Stephanie Austin, Mathias Meyer, et al.
Molecular Genetics and Metabolism|May 13, 2017
Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-upGail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, et al.
American Journal of Medical Genetics. Part A|August 2, 2017
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Paul McIntosh, Stephanie Austin, Jennifer Sullivan, et al.
JIMD Reports|January 24, 2015
Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe diseaseErin R McNamara, Stephanie Austin, Laura Case, et al.
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