Literature DB >> 12161608

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.

N Concannon, A-M Hegarty, R L Stallings, W Reardon.   

Abstract

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Mesh：

Year:  2002        PMID： 12161608      PMCID： PMC1735192          DOI： 10.1136/jmg.39.8.e41

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Authors:  Ilse Feenstra; Nicolien Hanemaaijer; Birgit Sikkema-Raddatz; Helger Yntema; Trijnie Dijkhuizen; Dorien Lugtenberg; Joke Verheij; Andrew Green; Roel Hordijk; William Reardon; Bert de Vries; Han Brunner; Ernie Bongers; Nicole de Leeuw; Conny van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

2.  Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Authors:  Jessica J Y Lee; Clara D M van Karnebeek; Wyeth W Wasserman
Journal:  J Am Med Inform Assoc       Date:  2019-02-01       Impact factor: 4.497
  2 in total

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