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

V Reid Sutton

Showing results (61-70 of 184) with videos related to

Pageof 19
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2026
Reproductive Carrier Screening Detects Early Actionable Metabolic ConditionsChristian M Parobek, Roni Zemet, Vivienne Souter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Journal of Child Neurology|July 11, 2007
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 childrenMargaret A K Glasmacher, V Reid Sutton, Bobbi Hopkins, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
Human Genetics|January 1, 2009
Non-random X chromosome inactivation in Aicardi syndromeTanya N Eble, V Reid Sutton, Haleh Sangi-Haghpeykar, et al.
American Journal of Medical Genetics. Part A|April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase DeficiencyAaron Williams, Kristian Divin, Lindsay C Burrage, et al.
American Journal of Medical Genetics. Part A|September 25, 2020
Extremity anomalies associated with Robinow syndromeAmjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.
The Journal of Pediatrics|November 26, 2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic DilemmaLindsay C Burrage, Marcus J Miller, Lee-Jun Wong, et al.
Prenatal Diagnosis|November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.
Orphanet Journal of Rare Diseases|January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot studyLaura L Tosi, Marianne K Floor, Christina M Dollar, et al.
Pageof 19

Showing results (61-70 of 184) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2026
Reproductive Carrier Screening Detects Early Actionable Metabolic ConditionsChristian M Parobek, Roni Zemet, Vivienne Souter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Journal of Child Neurology|July 11, 2007
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 childrenMargaret A K Glasmacher, V Reid Sutton, Bobbi Hopkins, et al.
Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.
Human Genetics|January 1, 2009
Non-random X chromosome inactivation in Aicardi syndromeTanya N Eble, V Reid Sutton, Haleh Sangi-Haghpeykar, et al.
American Journal of Medical Genetics. Part A|April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase DeficiencyAaron Williams, Kristian Divin, Lindsay C Burrage, et al.
American Journal of Medical Genetics. Part A|September 25, 2020
Extremity anomalies associated with Robinow syndromeAmjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.
The Journal of Pediatrics|November 26, 2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic DilemmaLindsay C Burrage, Marcus J Miller, Lee-Jun Wong, et al.
Prenatal Diagnosis|November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.
Orphanet Journal of Rare Diseases|January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot studyLaura L Tosi, Marianne K Floor, Christina M Dollar, et al.
Pageof 19