Damara Ortiz

Damara Ortiz

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Damara Ortiz

Damara Ortiz

Publications by authors named "Damara Ortiz"

6Publications

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1PubMed Central Citations

A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome).

Seizure 2018 Aug 19;60:120-122. Epub 2018 Jun 19.

Department of Genetics, Children's Hospital of Pittsburgh of UPMC, United States.

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http://dx.doi.org/10.1016/j.seizure.2018.06.008DOI Listing
August 2018

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018