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George E Hoganson

Showing results (1-10 of 13) with videos related to

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Pediatric Neurology|August 10, 2010
Zonisamide ameliorates symptoms of secondary paroxysmal dystoniaRobert T Egel, George E Hoganson, M Ammar Katerji, et al.
Chemistry, an Asian Journal|September 10, 2015
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia DiagnosisJingjing Zhang, Yu Xiang, Donna E Novak, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
The Journal of Pediatrics|July 22, 2017
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month ExperienceBarbara K Burton, Joel Charrow, George E Hoganson, et al.
International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 InfantsBarbara K Burton, Joel Charrow, George E Hoganson, et al.
Human Genetics|September 27, 2003
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screeningJuanliang Cai, Barbara K Goodman, Ankita S Patel, et al.
The Journal of Pediatrics|September 4, 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year ExperienceBarbara K Burton, George E Hoganson, Julie Fleischer, et al.
Molecular Genetics and Metabolism|August 3, 2010
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemiaJoaquín Fernández-Irigoyen, Enrique Santamaría, Yin-Hsiu Chien, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Pediatric Neurology|August 10, 2010
Zonisamide ameliorates symptoms of secondary paroxysmal dystoniaRobert T Egel, George E Hoganson, M Ammar Katerji, et al.
Chemistry, an Asian Journal|September 10, 2015
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia DiagnosisJingjing Zhang, Yu Xiang, Donna E Novak, et al.
Molecular Genetics and Metabolism Reports|April 22, 2014
Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam, Linda K Gallo, Richard Dineen, et al.
The Journal of Pediatrics|July 22, 2017
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month ExperienceBarbara K Burton, Joel Charrow, George E Hoganson, et al.
International Journal of Neonatal Screening|October 19, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 InfantsBarbara K Burton, Joel Charrow, George E Hoganson, et al.
Human Genetics|September 27, 2003
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screeningJuanliang Cai, Barbara K Goodman, Ankita S Patel, et al.
The Journal of Pediatrics|September 4, 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year ExperienceBarbara K Burton, George E Hoganson, Julie Fleischer, et al.
Molecular Genetics and Metabolism|August 3, 2010
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemiaJoaquín Fernández-Irigoyen, Enrique Santamaría, Yin-Hsiu Chien, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Pageof 2