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

[Trisomy 9p Rethoré's syndrome]

F Skovby

    Ugeskrift for Laeger
    |July 1, 1974
    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

    Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.

    Journal of psychiatric research·2024
    Same author

    Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

    Clinical genetics·2015
    Same author

    Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

    Human reproduction (Oxford, England)·2012
    Same author

    FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

    Dermatology (Basel, Switzerland)·2010
    Same author

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

    Journal of medical genetics·2009
    Same author

    Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

    The Canadian journal of cardiology·2009