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

Sonal Mahida

Showing results (1-10 of 34) with videos related to

Pageof 4
Sort By:
Annals of Clinical and Translational Neurology|February 22, 2021
KCNQ2-DEE: developmental or epileptic encephalopathy?Anne T Berg, Sonal Mahida, Annapurna Poduri
Genes|November 27, 2024
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and PhenotypeIvan Ruiz, Kimberly Wiltrout, Coral Stredny, et al.
Epilepsia|April 25, 2023
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathyDevon Knight, Sonal Mahida, Mckenna Kelly, et al.
Human Mutation|April 1, 2018
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autismThi Tuyet Mai Nguyen, Sonal Mahida, Constance Smith-Hicks, et al.
Clinical Genetics|April 23, 2025
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene RegistryNora C Callahan, Sonal Mahida, Abigail Sveden, et al.
Journal of Genetic Counseling|January 26, 2019
Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditionsXin Li, Rachel Nusbaum, Constance Smith-Hicks, et al.
Genes|April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental DisorderIneke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and careAshley J Pounders, Gabrielle V Rushing, Sonal Mahida, et al.
American Journal of Medical Genetics. Part A|May 18, 2019
Expansion of the clinical spectrum associated with AARS2-related disordersSiddharth Srivastava, Ankur Butala, Sonal Mahida, et al.
Annals of Clinical and Translational Neurology|January 26, 2021
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two SiblingsChristopher M McGraw, Sonal Mahida, Parul Jayakar, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Annals of Clinical and Translational Neurology|February 22, 2021
KCNQ2-DEE: developmental or epileptic encephalopathy?Anne T Berg, Sonal Mahida, Annapurna Poduri
Genes|November 27, 2024
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and PhenotypeIvan Ruiz, Kimberly Wiltrout, Coral Stredny, et al.
Epilepsia|April 25, 2023
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathyDevon Knight, Sonal Mahida, Mckenna Kelly, et al.
Human Mutation|April 1, 2018
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autismThi Tuyet Mai Nguyen, Sonal Mahida, Constance Smith-Hicks, et al.
Clinical Genetics|April 23, 2025
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene RegistryNora C Callahan, Sonal Mahida, Abigail Sveden, et al.
Journal of Genetic Counseling|January 26, 2019
Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditionsXin Li, Rachel Nusbaum, Constance Smith-Hicks, et al.
Genes|April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental DisorderIneke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and careAshley J Pounders, Gabrielle V Rushing, Sonal Mahida, et al.
American Journal of Medical Genetics. Part A|May 18, 2019
Expansion of the clinical spectrum associated with AARS2-related disordersSiddharth Srivastava, Ankur Butala, Sonal Mahida, et al.
Annals of Clinical and Translational Neurology|January 26, 2021
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two SiblingsChristopher M McGraw, Sonal Mahida, Parul Jayakar, et al.
Pageof 4