Related Experiment Video

Updated: Jul 11, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

Carrier screening for Gaucher disease: more harm than good?

Ernest Beutler

    JAMA
    |September 20, 2007
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
    10:16

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

    Published on: December 20, 2017

    High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay
    12:55

    High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay

    Published on: June 1, 2014

    Related Experiment Videos

    Last Updated: Jul 11, 2026

    A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
    06:35

    A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

    Published on: October 10, 2022

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
    10:16

    In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

    Published on: December 20, 2017

    High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay
    12:55

    High-throughput Functional Screening using a Homemade Dual-glow Luciferase Assay

    Published on: June 1, 2014

    Related Concept Videos

    Genetic Screens02:46

    Genetic Screens

    Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
    Forward genetic screens
    Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
    Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

    Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

    Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...

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

    Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6.

    British journal of haematology·2009

    Genetic screening for low-penetrance variants in protein-coding genes.

    Annual review of genomics and human genetics·2009

    Regulation of hepcidin and iron-overload disease.

    Annual review of pathology·2009

    The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.

    Blood cells, molecules & diseases·2009

    Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness.

    Blood·2008

    Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.

    Blood cells, molecules & diseases·2008

    Cold and Room-Temperature Platelets in Cardiac Surgery: The CHIPS Randomized Clinical Trial.

    JAMA·2026

    Stereotactic Body Radiotherapy vs Moderately Hypofractionated IMRT for Localized Intermediate-Risk Prostate Cancer: A Randomized Clinical Trial.

    JAMA·2026

    Pathogenicity and virulence of Crimean-Congo hemorrhagic fever virus: From enzootic maintenance to severe human disease.

    Virulence·2026

    Tattoo Ink as a Chronic Intradermal Chemical Exposure: A Policy and Research Agenda for US Regulation.

    Public health reports (Washington, D.C. : 1974)·2026

    Community codes of conduct as proactive intervention for toxicity in games.

    Frontiers in public health·2026

    Fulminant Postoperative Peritonitis Following Cocaine Packet Rupture in a Body Packer.

    Cureus·2026

    European exonerations: Factors and frequencies of wrongful convictions in Europe.

    Forensic science international. Synergy·2026

    Using extreme risk protection orders to prevent violence among people experiencing homelessness in California and Colorado: a case series.

    Injury epidemiology·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