Jennefer N Kohler

Jennefer N Kohler

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Jennefer N Kohler

Jennefer N Kohler

Publications by authors named "Jennefer N Kohler"

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11Publications

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 Mar 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Genomics in medicine: a novel elective rotation for internal medicine residents.

Postgrad Med J 2019 Oct 22;95(1128):569-572. Epub 2019 Aug 22.

Department of Medicine, Stanford School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1136/postgradmedj-2018-136355DOI Listing
October 2019

Personal utility in genomic testing: a systematic literature review.

Eur J Hum Genet 2017 06 15;25(6):662-668. Epub 2017 Mar 15.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2017.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477355PMC
June 2017