Publications by authors named "George E Tiller"

11Publications

PMM2-CDG caused by uniparental disomy: Case report and literature review.

JIMD Rep 2020 Jul 28;54(1):16-21. Epub 2020 Apr 28.

Department of Clinical Genomics, and Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA.

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http://dx.doi.org/10.1002/jmd2.12122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358672PMC
July 2020

Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.

J Community Genet 2020 Jul 24;11(3):359-366. Epub 2020 Feb 24.

Department of Research & Evaluation, Kaiser Permanente Southern California, 100 S. Los Robles, 2nd Floor, Pasadena, CA, 91101, USA.

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http://dx.doi.org/10.1007/s12687-020-00456-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295891PMC
July 2020

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Hum Mol Genet 2017 11;26(21):4095-4104

Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

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http://dx.doi.org/10.1093/hmg/ddx297DOI Listing
November 2017

Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting.

Prenat Diagn 2015 May 30;35(5):428-33. Epub 2014 Sep 30.

Department of Genetics, Southern California Permanente Medical Group, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/pd.4495DOI Listing
May 2015

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Skeletal Radiol 2012 Nov 26;41(11):1479-87. Epub 2012 May 26.

Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea.

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http://dx.doi.org/10.1007/s00256-012-1442-1DOI Listing
November 2012

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

Pediatrics 2004 Oct;114(4):e532-5

Division of Pediatric Nephrology, Vanderbilt University Medical Center, C-4204 Medical Center North, Nashville, TN 37232-2584, USA.

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http://dx.doi.org/10.1542/peds.2003-0988-LDOI Listing
October 2004