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

Casie A Genetti

Showing results (1-10 of 87) with videos related to

Pageof 9
Sort By:
Pediatrics|January 3, 2019
Challenging the Current Recommendations for Carrier Testing in ChildrenGrace E VanNoy, Casie A Genetti, Amy L McGuire, et al.
Orphanet Journal of Rare Diseases|June 6, 2023
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United StatesRobert J Graham, Basil T Darras, Tmirah Haselkorn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunitiesMonica H Wojcik, Talia S Schwartz, Inbar Yamin, et al.
Neurology. Genetics|November 3, 2022
Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.
American Journal of Medical Genetics. Part A|December 29, 2023
High number of candidate gene variants are identified as disease-causing in a period of 4 yearsSonia Hills, Qifei Li, Jill A Madden, et al.
Bone|April 14, 2023
X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variantJulio Soto Barros, Sabrina I Sanchez, Kristin Cabral, et al.
Pediatric Neurology|September 8, 2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic SeizuresSamantha Palmer, Meghan C Towne, Phillip L Pearl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care UnitsAlissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Children (Basel, Switzerland)|August 26, 2023
Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case SeriesJenny Sun, Don Daniel Ocay, Meghan Halpin, et al.
BMJ Open|February 6, 2024
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept studyAlissa M D'Gama, Sonia Hills, Jessica Douglas, et al.
Pageof 9

Showing results (1-10 of 87) with videos related to

Sort By:
Pageof 9
Pediatrics|January 3, 2019
Challenging the Current Recommendations for Carrier Testing in ChildrenGrace E VanNoy, Casie A Genetti, Amy L McGuire, et al.
Orphanet Journal of Rare Diseases|June 6, 2023
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United StatesRobert J Graham, Basil T Darras, Tmirah Haselkorn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunitiesMonica H Wojcik, Talia S Schwartz, Inbar Yamin, et al.
Neurology. Genetics|November 3, 2022
Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.
American Journal of Medical Genetics. Part A|December 29, 2023
High number of candidate gene variants are identified as disease-causing in a period of 4 yearsSonia Hills, Qifei Li, Jill A Madden, et al.
Bone|April 14, 2023
X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variantJulio Soto Barros, Sabrina I Sanchez, Kristin Cabral, et al.
Pediatric Neurology|September 8, 2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic SeizuresSamantha Palmer, Meghan C Towne, Phillip L Pearl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care UnitsAlissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Children (Basel, Switzerland)|August 26, 2023
Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case SeriesJenny Sun, Don Daniel Ocay, Meghan Halpin, et al.
BMJ Open|February 6, 2024
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept studyAlissa M D'Gama, Sonia Hills, Jessica Douglas, et al.
Pageof 9