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

Cynthia M Powell

Showing results (21-30 of 65) with videos related to

Pageof 7
Sort By:
American Journal of Medical Genetics. Part A|May 17, 2007
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethalityChristian Kranz, Alice A Basinger, Müge Güçsavaş-Calikoğlu, et al.
Pediatrics|January 6, 2016
Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision AidMegan A Lewis, Ryan S Paquin, Myra I Roche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2025
The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG)Nancy C Rose, Michele Caggana, Mary Beth Dinulos, et al.
Health Psychology : Official Journal of the Division of Health Psychology, American Psychological Association|December 31, 2019
Values clarification and parental decision making about newborn genomic sequencingSusana Peinado, Ryan S Paquin, Christine Rini, et al.
Frontiers in Cellular Neuroscience|October 16, 2023
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterizationLeping Li, Lalith Perera, Sonia A Varghese, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndromeNatario L Couser, Daniel S Marchuk, Laurie D Smith, et al.
Genome Medicine|March 30, 2021
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-makingDaniela M DeCristo, Laura V Milko, Julianne M O'Daniel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experimentMegan A Lewis, Alex Stine, Ryan S Paquin, et al.
HGG Advances|April 5, 2026
Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?Tamara S Roman, Shannon Gray, Tam P Sneddon, et al.
Social Science & Medicine (1982)|November 19, 2018
A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newbornsRyan S Paquin, Susana Peinado, Megan A Lewis, et al.
Pageof 7

Showing results (21-30 of 65) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|May 17, 2007
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethalityChristian Kranz, Alice A Basinger, Müge Güçsavaş-Calikoğlu, et al.
Pediatrics|January 6, 2016
Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision AidMegan A Lewis, Ryan S Paquin, Myra I Roche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2025
The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG)Nancy C Rose, Michele Caggana, Mary Beth Dinulos, et al.
Health Psychology : Official Journal of the Division of Health Psychology, American Psychological Association|December 31, 2019
Values clarification and parental decision making about newborn genomic sequencingSusana Peinado, Ryan S Paquin, Christine Rini, et al.
Frontiers in Cellular Neuroscience|October 16, 2023
A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterizationLeping Li, Lalith Perera, Sonia A Varghese, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndromeNatario L Couser, Daniel S Marchuk, Laurie D Smith, et al.
Genome Medicine|March 30, 2021
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-makingDaniela M DeCristo, Laura V Milko, Julianne M O'Daniel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experimentMegan A Lewis, Alex Stine, Ryan S Paquin, et al.
HGG Advances|April 5, 2026
Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?Tamara S Roman, Shannon Gray, Tam P Sneddon, et al.
Social Science & Medicine (1982)|November 19, 2018
A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newbornsRyan S Paquin, Susana Peinado, Megan A Lewis, et al.
Pageof 7