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

Luis Rohena

Showing results (31-40 of 36) with videos related to

Pageof 4
Sort By:
You have reached the last page of results.This site can display upto 36 results.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 4