Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

S Bali

Showing results (101-110 of 111) with videos related to

Pageof 12
Sort By:
Journal of Child Neurology|September 16, 2011
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationSing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2015
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Priya S Kishnani, Jennifer Goldstein, Stephanie L Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and GenomicsPriya S Kishnani, Stephanie L Austin, Jose E Abdenur, et al.
JAMA Network Open|February 1, 2020
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaStacey Lee, Kristin Clinard, Sarah P Young, et al.
Plos One|July 5, 2013
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERTSuhrad G Banugaria, Sean N Prater, Trusha T Patel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2010
Glycogen storage disease type III diagnosis and management guidelinesPriya S Kishnani, Stephanie L Austin, Pamela Arn, et al.
Hernia : the Journal of Hernias and Abdominal Wall Surgery|November 1, 2015
Topic: Inguinal Hernia - Influence of guidelines on daily practiceS Zanella, A Vassiliadis, F Buccelleti, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Pageof 12

Showing results (101-110 of 111) with videos related to

Sort By:
Pageof 12
Journal of Child Neurology|September 16, 2011
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutationSing-Chung Li, Wuh-Liang Hwu, Ju-Li Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2015
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Priya S Kishnani, Jennifer Goldstein, Stephanie L Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and GenomicsPriya S Kishnani, Stephanie L Austin, Jose E Abdenur, et al.
JAMA Network Open|February 1, 2020
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaStacey Lee, Kristin Clinard, Sarah P Young, et al.
Plos One|July 5, 2013
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERTSuhrad G Banugaria, Sean N Prater, Trusha T Patel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2010
Glycogen storage disease type III diagnosis and management guidelinesPriya S Kishnani, Stephanie L Austin, Pamela Arn, et al.
Hernia : the Journal of Hernias and Abdominal Wall Surgery|November 1, 2015
Topic: Inguinal Hernia - Influence of guidelines on daily practiceS Zanella, A Vassiliadis, F Buccelleti, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Pageof 12