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

Short rib syndrome without polydactyly

K Chen, P A McKeever, I D Young

    Journal of Medical Genetics
    |May 1, 1989
    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

    Towards characterization of photo-excited electron transfer and catalysis in natural and artificial systems using XFELs.

    Faraday discussions·2016
    Same author

    Amyloid and the cardiovascular system: A review of pathogenesis and pathology with clinical correlations.

    Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology·2015
    Same author

    Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations.

    Prenatal diagnosis·2003
    Same author

    Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

    British journal of cancer·2003
    Same author

    Coffin-Lowry syndrome: clinical and molecular features.

    Journal of medical genetics·2002
    Same author

    Epstein-Barr virus-associated acute interstitial nephritis: infection or immunologic phenomenon?

    Nephron·2002
    Same journal

    Frequent <i>FBN2</i> variants in pectus excavatum highlight underlying phenotypic variability.

    Journal of medical genetics·2026
    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
    See all related articles