Literature DB >> 10607961

Mosaicism in Prader-Willi syndrome.

R D Nicholls.   

Abstract

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Year:  2000        PMID： 10607961     DOI： 10.1002/(sici)1096-8628(20000117)90:2<175::aid-ajmg18>3.0.co;2-e

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


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  3 in total

1.  A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.

Authors:  Jéssica Fernandes Dos Santos; Laís R Mota; Pedro Henrique Silva Andrade Rocha; Renata Lúcia L Ferreira de Lima
Journal:  Mol Biol Rep       Date:  2016-08-17       Impact factor: 2.316

2.  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

3.  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
  3 in total

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