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S Bali

Showing results (61-70 of 111) with videos related to

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JIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella 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 screeningShelly 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 experimentsA 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 DeficiencyDeeksha 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 experienceDeeksha 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 technologyNabanita 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 ScreeningPriya 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 technologyAgnes 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 reviewPilar L Magoulas, Ayman W El-Hattab, Angshumoy Roy, et al.
Pageof 12

Showing results (61-70 of 111) with videos related to

Sort By:
Pageof 12
JIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella 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 screeningShelly 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 experimentsA 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 DeficiencyDeeksha 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 experienceDeeksha 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 technologyNabanita 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 ScreeningPriya 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 technologyAgnes 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 reviewPilar L Magoulas, Ayman W El-Hattab, Angshumoy Roy, et al.
Pageof 12