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List of works by Matthew E Portnoy

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

scientific article

Comparative sequence analysis of the Gdf6 locus reveals a duplicon-mediated chromosomal rearrangement in rodents and rapidly diverging coding and regulatory sequences

scientific article

Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer

scientific article published in September 2005

In silico and functional studies of the regulation of the glucocerebrosidase gene

scientific article

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

scientific article

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