
This combined purchase contains: London Dysmorphology Database - information on 3,230 non-chromosomal, multiple congenital anomaly syndromes and 30,726 references London Neurogenetics Database - details of 2,953 syndromes involving the central and peripheral nervous system and 32,441 references. The databases are simple to use and have many invaluable features. You can browse or search for the syndromes, features, and references supplied. Searches can be combined or progressively refined, and you can print or save searches at the click of a mouse. The databases arose from a need to diagnose and provide genetic counselling for the hundreds of rare multiple congenital malformation syndromes. Work began on the London Dysmorphology Database in 1981 with the intention of ascertaining the majority of reported syndromes in the literature. All major reference works were consulted, as well as all journals that might contain a report of multiple congenital anomaly syndromes. New features of the 2000 database include a direct link from the database to the Online Mendelian Inheritance in Man (OMIM) web site, links from the references to Medline abstracts and a new online updating service. Free online updates for all purchasers of version 2.2 For all purchasers of the new databases a free online updating service is available. Updates will be placed on our web site at regular intervals. Users can download these updates, and at the click of a button, integrate them into their database.
This database collection serves as a comprehensive diagnostic tool for identifying rare non-chromosomal congenital anomaly syndromes and neurological disorders. Dr. Michael Baraitser and Robin Winter developed these resources to assist clinicians in genetic counseling by aggregating vast amounts of medical literature into a searchable, digital format. The framework relies on extensive bibliographic data and clinical descriptions to facilitate accurate syndrome identification.
What You Will Find
Scope Limits
Medical professionals and geneticists frequently utilize these databases as a foundational reference for rare disease diagnostics. Experts highlight the utility of the integrated search and update functions for maintaining clinical accuracy in a rapidly evolving field.
Page Count:
0
Publication Date:
2000-02-10
Publisher:
Oxford Univ Pr
ISBN-10:
0192687999
ISBN-13:
9780192687999
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