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

Related Experiment Videos

A new HGPRT-deficient phenotype?

S Kelly, E J Hart, L Desjardins

    Journal of Medical Genetics
    |December 1, 1972
    PubMed
    Summary

    No abstract available in PubMed .

    Related Experiment Videos

    Related Concept Videos

    You might also read

    Related Articles

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

    Sort by
    Same author

    [JFO turns the page: The switch to all-digital technology].

    Journal francais d'ophtalmologie·2023
    Same author

    Secondary orbital exenteration for conjunctival melanoma: A study of 25 cases.

    Journal francais d'ophtalmologie·2021
    Same author

    Basal cell carcinomas of the eyelid: Results of an initial surgical management.

    Journal francais d'ophtalmologie·2019
    Same author

    Outcomes after surgical resection of lower eyelid tumors and reconstruction using a nasal chondromucosal graft and an upper eyelid myocutaneous flap.

    Journal francais d'ophtalmologie·2018
    Same author

    Evisceration and ocular tumors: What are the consequences?

    Journal francais d'ophtalmologie·2017
    Same author

    [Relationship between human immunodeficiency virus (HIV-AIDS) and conjunctival squamous cell carcinoma: A clinical epidemiological study of 26 cases in the ophthalmology department of the university hospital of Treichville-Abidjan (Abidjan-Côte d'Ivoire)].

    Journal francais d'ophtalmologie·2016
    Same journal

    Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

    Journal of medical genetics·2026
    Same journal

    Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

    Journal of medical genetics·2026
    Same journal

    Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

    Journal of medical genetics·2026
    Same journal

    Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

    Journal of medical genetics·2026
    Same journal

    Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

    Journal of medical genetics·2026
    Same journal

    Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

    Journal of medical genetics·2026
    See all related articles