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

Sampathkumar Rangasamy

Showing results (21-30 of 26) with videos related to

Pageof 3
Sort By:
You have reached the last page of results.This site can display upto 26 results.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Pageof 3