Leah K. Dowsett
Medical Genetics | Pediatrics
550 S Beretania St
Honolulu, HI 96813
Honolulu, HI 96813
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Genetic predisposition to diabetes and risk of stroke in a Native Hawaiian population.
Journal: Journal of diabetes and metabolic disorders
Published: August 19, 2025
Advancing stroke genetics in Hawai'i and the Pacific Islands.
Journal: Frontiers in stroke
Published: December 02, 2022
Delayed diagnosis and racial bias in children with genetic conditions.
Journal: American journal of medical genetics. Part A
Published: September 03, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Journal: American journal of medical genetics. Part A
Published: February 17, 2021
Depiction of Hāloa by Solomon Enos.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 19, 2020
A pediatric case of acute myeloid leukemia with KMT2A gene rearrangement t(10;11) and 16p11.2 microdeletion syndrome.
Journal: Pediatric blood & cancer
Published: October 15, 2020
Rubinstein-Taybi syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: June 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2.
Journal: American journal of medical genetics. Part A
Published: October 24, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Journal: American journal of medical genetics. Part A
Published: February 21, 2019
Cornelia de Lange syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: June 05, 2018
Williams-Beuren syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: December 18, 2017
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.
Journal: International journal of neonatal screening
Published: July 28, 2017
Showing 1-12 of 12
Last Updated: 09/26/2026