Literature DB >> 11256674

The Online London Dysmorphology Database.

S S Guest1, C D Evans, R M Winter.   

Abstract

A prototype of the Online London Dysmorphology Database is now available for testing purposes. In this paper we describe the new online version of the London Dysmorphology Database (LDDB), which is accessible via the World-Wide Web. The system has been developed primarily to address the information lag associated with the stand-alone version of LDDB (currently 3-15 months) and therefore provides access to the latest data from the master database that resides on a web server. An additional benefit is that, because the Online LDDB is a web-based resource, it will be available to users of both Macintosh and Unix computers as well as PC users.

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Year:  1999        PMID： 11256674     DOI： 10.1097/00125817-199907000-00007

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


  3 in total

1.  Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Authors:  Emma M Jenkinson; Atteeq U Rehman; Tom Walsh; Jill Clayton-Smith; Kwanghyuk Lee; Robert J Morell; Meghan C Drummond; Shaheen N Khan; Muhammad Asif Naeem; Bushra Rauf; Neil Billington; Julie M Schultz; Jill E Urquhart; Ming K Lee; Andrew Berry; Neil A Hanley; Sarju Mehta; Deirdre Cilliers; Peter E Clayton; Helen Kingston; Miriam J Smith; Thomas T Warner; Graeme C Black; Dorothy Trump; Julian R E Davis; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Mary-Claire King; Thomas B Friedman; William G Newman
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

2.  Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Authors:  Muhsin Elmas; Basak Gogus
Journal:  Mol Syndromol       Date:  2020-02-01

3.  PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Authors:  Ada Hamosh; Nara Sobreira; Julie Hoover-Fong; V Reid Sutton; Corinne Boehm; François Schiettecatte; David Valle
Journal:  Hum Mutat       Date:  2013-03-04       Impact factor: 4.878
  3 in total

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