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JIMD Reports
|
November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia
Mariella Simon, Richard C Chang, Deeksha S Bali, et al.
Frontiers in Genetics
|
October 17, 2022
Development of a clinically validated <i>in vitro</i> functional assay to assess pathogenicity of novel <i>GAA</i> variants in patients with Pompe disease identified <i>via</i> newborn screening
Shelly Goomber, Erin Huggins, Catherine W Rehder, et al.
The Review of Scientific Instruments
|
June 3, 2016
Note: Design and implementation of a home-built imaging system with low jitter for cold atom experiments
A J Hachtel, M C Gillette, E R Clements, et al.
JIMD Reports
|
March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 19, 2012
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience
Deeksha S Bali, Jennifer L Goldstein, Suhrad Banugaria, et al.
Forensic Science International
|
October 25, 2022
Speaker identification in courtroom contexts - Part I: Individual listeners compared to forensic voice comparison based on automatic-speaker-recognition technology
Nabanita Basu, Agnes S Bali, Philip Weber, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening
Priya S Kishnani, Zoheb B Kazi, Kathryn L Berrier, et al.
Forensic Science International
|
May 11, 2024
Speaker identification in courtroom contexts - Part III: Groups of collaborating listeners compared to forensic voice comparison based on automatic-speaker-recognition technology
Agnes S Bali, Nabanita Basu, Philip Weber, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Human Pathology
|
February 7, 2012
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review
Pilar L Magoulas, Ayman W El-Hattab, Angshumoy Roy, et al.
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of 12
Search research articles
Search
Showing results (61-70 of 111) with videos related to
Sort By:
Page
of 12
JIMD Reports
|
November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia
Mariella Simon, Richard C Chang, Deeksha S Bali, et al.
Frontiers in Genetics
|
October 17, 2022
Development of a clinically validated <i>in vitro</i> functional assay to assess pathogenicity of novel <i>GAA</i> variants in patients with Pompe disease identified <i>via</i> newborn screening
Shelly Goomber, Erin Huggins, Catherine W Rehder, et al.
The Review of Scientific Instruments
|
June 3, 2016
Note: Design and implementation of a home-built imaging system with low jitter for cold atom experiments
A J Hachtel, M C Gillette, E R Clements, et al.
JIMD Reports
|
March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 19, 2012
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience
Deeksha S Bali, Jennifer L Goldstein, Suhrad Banugaria, et al.
Forensic Science International
|
October 25, 2022
Speaker identification in courtroom contexts - Part I: Individual listeners compared to forensic voice comparison based on automatic-speaker-recognition technology
Nabanita Basu, Agnes S Bali, Philip Weber, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening
Priya S Kishnani, Zoheb B Kazi, Kathryn L Berrier, et al.
Forensic Science International
|
May 11, 2024
Speaker identification in courtroom contexts - Part III: Groups of collaborating listeners compared to forensic voice comparison based on automatic-speaker-recognition technology
Agnes S Bali, Nabanita Basu, Philip Weber, et al.
Molecular Genetics and Metabolism Reports
|
July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Human Pathology
|
February 7, 2012
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review
Pilar L Magoulas, Ayman W El-Hattab, Angshumoy Roy, et al.
Page
of 12