Publications by authors named "Amy Shealy"

8 Publications

  • Page 1 of 1

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

Ann Clin Transl Neurol 2016 Feb 21;3(2):114-23. Epub 2015 Dec 21.

Department of Human Genetics University of Michigan Ann Arbor Michigan.

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February 2016

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

World J Gastroenterol 2008 Nov;14(44):6863-6

Department of Pediatric Gastroenterology and Nutrition, Cleveland Clinic, 9500 Euclid Avenue, Desk A-111, Cleveland, OH 44195, USA.

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November 2008

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

Nat Clin Pract Oncol 2007 Oct;4(10):608-12

Genomic Medicine Institute at the Cleveland Clinic, Cleveland, OH, USA.

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October 2007