Literature DB >> 14569136

An alternative to FISH: detecting deletion and duplication carriers within 24 hours.

S J White, E Sterrenburg, G-J B van Ommen, J T den Dunnen, M H Breuning.   

Abstract

Mesh：

Year:  2003        PMID： 14569136      PMCID： PMC1735298          DOI： 10.1136/jmg.40.10.e113

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


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  3 in total

1.  Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

Authors:  Pawandeep Dhami; Alison J Coffey; Stephen Abbs; Joris R Vermeesch; Jan P Dumanski; Karen J Woodward; Robert M Andrews; Cordelia Langford; David Vetrie
Journal:  Am J Hum Genet       Date:  2005-03-08       Impact factor: 11.025

2.  Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.

Authors:  Prashant K Verma; Ashwin Dalal; Balraj Mittal; Shubha R Phadke
Journal:  Indian J Hum Genet       Date:  2012-01

3.  A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Authors:  M A Delgado; G Martinez-Domenech; P Sarrión; R Urreizti; L Zecchini; H H Robledo; F Segura; R Dodelson de Kremer; S Balcells; D Grinberg; C G Asteggiano
Journal:  Sci Rep       Date:  2014-09-18       Impact factor: 4.379
  3 in total

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