Tatsuro Kondoh
Isahaya, 8590164, Japan
Last Updated: 09/26/2026
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Found 17 publications
Direct evaluation of salivary antioxidant properties in patients with down syndrome for assessment to periodontal disease and premature aging.
Journal: Free radical biology & medicine
Published: October 15, 2024
Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome.
Journal: Gene
Published: November 09, 2021
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.
Journal: European journal of medical genetics
Published: July 29, 2020
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.
Journal: Journal of human genetics
Published: February 14, 2019
Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.
Journal: Scientific reports
Published: August 15, 2018
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.
Journal: BMC research notes
Published: October 10, 2017
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.
Journal: Journal of human genetics
Published: September 07, 2017
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.
Journal: Journal of human genetics
Published: April 19, 2017
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism.
Journal: Human genome variation
Published: January 01, 2017
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Journal: American journal of medical genetics. Part A
Published: April 06, 2015
Last Updated: 09/26/2026