Publications by authors named "Sara Ellingwood"

10Publications

Biochemical and clinical aspects of glycogen storage diseases.

J Endocrinol 2018 09 6;238(3):R131-R141. Epub 2018 Jun 6.

Department of Biochemistry and Molecular GeneticsUniversity of Louisville School of Medicine, Louisville, Kentucky, USA

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http://dx.doi.org/10.1530/JOE-18-0120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050127PMC
September 2018

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

Am J Med Genet A 2014 Jul 3;164A(7):1795-801. Epub 2014 Apr 3.

Cytogenetics and Genomic Microarray, ARUP Laboratories, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36524DOI Listing
July 2014

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project.

Genet Med 2005 Jan;7(1):21-7

Southern Maine Genetics Services, Foundation for Blood Research, Scarborough, Maine, USA.

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http://dx.doi.org/10.1097/01.gim.0000151150.20570.e7DOI Listing
January 2005