Publications by authors named "Leah Dowsett"

7Publications

A pediatric case of acute myeloid leukemia with KMT2A gene rearrangement t(10;11) and 16p11.2 microdeletion syndrome.

Pediatr Blood Cancer 2020 Oct 15:e28764. Epub 2020 Oct 15.

Department of Pediatrics, University of Hawai'i, John A. Burns School of Medicine, Honolulu, Hawaii.

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http://dx.doi.org/10.1002/pbc.28764DOI Listing
October 2020

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.

Int J Neonatal Screen 2017 Jun 28;3(2). Epub 2017 Apr 28.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.

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http://dx.doi.org/10.3390/ijns3020010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523953PMC
June 2017