Publications by authors named "Heidi Thiese"

7Publications

Building a family network from genetic testing.

Mol Genet Genomic Med 2017 Mar 29;5(2):122-129. Epub 2016 Dec 29.

Department of Medicine (Medical Genetics) and Genomic Sciences University of Washington Seattle WA 98195 USA.

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http://dx.doi.org/10.1002/mgg3.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370219PMC
March 2017

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014