Hitomi Shimizu
Nagasaki, Japan
Last Updated: 09/26/2026
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Found 9 publications
Acoustic features of emotional expression in 5-year-old children with autism spectrum disorder.
Journal: Frontiers in psychiatry
Published: June 06, 2024
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.
Journal: European journal of medical genetics
Published: July 29, 2020
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
Journal: Endocrine journal
Published: July 10, 2020
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
Journal: Human genome variation
Published: April 11, 2020
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
Journal: Journal of human genetics
Published: December 07, 2018
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
Journal: Journal of human genetics
Published: January 09, 2017
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: September 06, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026