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Gerald F Cox

Showing results (1-10 of 75) with videos related to

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Progress in Pediatric Cardiology|November 26, 2008
Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to TherapyGerald F Cox
American Journal of Medical Genetics. Part A|February 10, 2018
The art and science of choosing efficacy endpoints for rare disease clinical trialsGerald F Cox
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literatureNancy J Terlato, Gerald F Cox
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|September 2, 2006
Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysisPhilip J Katzman, Leslie B Smoot, Gerald F Cox
Molecular Genetics and Metabolism|February 28, 2016
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studiesYong Xue, Susan M Richards, Asif Mahmood, et al.
Molecular Genetics and Metabolism|October 24, 2022
Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trialCaroline Hastings, Benny Liu, Bryan Hurst, et al.
JIMD Reports|July 12, 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 PatientsGerald F Cox, Lorne A Clarke, Roberto Giugliani, et al.
Seminars in Ophthalmology|October 22, 2013
CRB1: one gene, many phenotypesMiriam Ehrenberg, Eric A Pierce, Gerald F Cox, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|June 11, 2003
Retinal function in carriers of Bardet-Biedl syndromeGerald F Cox, Ronald M Hansen, Nicole Quinn, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis IJanet A Thomas, Michael Beck, Joe T R Clarke, et al.
Pageof 8

Showing results (1-10 of 75) with videos related to

Sort By:
Pageof 8
Progress in Pediatric Cardiology|November 26, 2008
Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to TherapyGerald F Cox
American Journal of Medical Genetics. Part A|February 10, 2018
The art and science of choosing efficacy endpoints for rare disease clinical trialsGerald F Cox
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2003
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literatureNancy J Terlato, Gerald F Cox
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|September 2, 2006
Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysisPhilip J Katzman, Leslie B Smoot, Gerald F Cox
Molecular Genetics and Metabolism|February 28, 2016
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studiesYong Xue, Susan M Richards, Asif Mahmood, et al.
Molecular Genetics and Metabolism|October 24, 2022
Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trialCaroline Hastings, Benny Liu, Bryan Hurst, et al.
JIMD Reports|July 12, 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 PatientsGerald F Cox, Lorne A Clarke, Roberto Giugliani, et al.
Seminars in Ophthalmology|October 22, 2013
CRB1: one gene, many phenotypesMiriam Ehrenberg, Eric A Pierce, Gerald F Cox, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|June 11, 2003
Retinal function in carriers of Bardet-Biedl syndromeGerald F Cox, Ronald M Hansen, Nicole Quinn, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis IJanet A Thomas, Michael Beck, Joe T R Clarke, et al.
Pageof 8