Related Experiment Video

Updated: Mar 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and

Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher

    Nature Genetics
    |February 1, 2017
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
    05:12

    Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

    Published on: September 4, 2017

    11.4K
    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
    07:38

    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

    Published on: March 30, 2015

    9.7K

    Related Experiment Videos

    Last Updated: Mar 8, 2026

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
    08:22

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    Published on: December 1, 2017

    9.2K
    Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
    05:12

    Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

    Published on: September 4, 2017

    11.4K
    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
    07:38

    Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

    Published on: March 30, 2015

    9.7K

    Related Concept Videos

    Comparing Copy Number Variations and SNPs02:26

    Comparing Copy Number Variations and SNPs

    18.9K
    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
    Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
    18.9K

    Articles linked to this work by shared authors, journal, and citation graph.

    Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A.

    Stem cell research·2026

    Frontal alpha asymmetry and NoGo N2 amplitude interact to explain non-supportive parenting practices.

    Scientific reports·2026

    An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect.

    The Journal of general physiology·2026

    Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

    medRxiv : the preprint server for health sciences·2026

    Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

    Molecular genetics and metabolism·2026

    Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.

    Orphanet journal of rare diseases·2026

    Interpreting human genetic variation at atomic resolution.

    Nature genetics·2026

    Genetic landscape of an in vivo protein interactome.

    Nature genetics·2026

    Crop legacies as genetic targets for sustainable farming systems.

    Nature genetics·2026

    Type 1 interferon perturbates clonal competition by reshaping human blood development.

    Nature genetics·2026

    Pan-genome-based resequencing of 2,320 accessions reveals structural variations and accelerates breeding advances in cultivated peanut.

    Nature genetics·2026

    All of Us diversity and scale yield context-dependent improvements in polygenic prediction.

    Nature genetics·2026

    Conjugation-Length Dependent Interplay Between Charge Transfer and Locally Excited States in Sequence-Defined Donor-Acceptor Substituted Oligo(Phenylene Ethynylene)s.

    Macromolecular rapid communications·2026

    Reactivity and adsorption mechanisms in polymer-graphene nanocomposites: a theoretical investigation on polypyrrole based systems.

    Physical chemistry chemical physics : PCCP·2026

    Visible light-induced single bond rotation in azoarenes triggered by self-sensitized oxidation.

    Chemical science·2026

    Visible light-mediated synthesis of metal-free molecularly imprinted polymers for highly selective creatinine detection.

    International journal of biological macromolecules·2026

    Toward high-temperature superconductivity in organic systems.

    Reports on progress in physics. Physical Society (Great Britain)·2026

    CMC/cassava starch films containing black wolfberry anthocyanins and tea polyphenols: Physicochemical characterization and preliminary application in cherry storage.

    International journal of food microbiology·2026
    See all related articles
    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
    Jove
    Visualize
    Contact Us