Literature DB >> 9677058

Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses.

P Malzac1, A Moncla, K Pedeillier, C Vo Van, L Girardot, M A Voelckel.   

Abstract

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Year:  1998        PMID： 9677058     DOI： 10.1002/(sici)1096-8628(19980707)78:3<242::aid-ajmg6>3.0.co;2-r

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  2 in total

1.  Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Simon C Ramsden; Jill Clayton-Smith; Rachael Birch; Karin Buiting
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

2.  Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Jasmin Beygo; Karin Buiting; Simon C Ramsden; Rachael Ellis; Jill Clayton-Smith; Deniz Kanber
Journal:  Eur J Hum Genet       Date:  2019-06-24       Impact factor: 4.246
  2 in total

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