Daiki Kondo
Akita, 0110948, Japan
Last Updated: 09/26/2026
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Found 9 publications
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.
Journal: International journal of molecular sciences
Published: April 30, 2024
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: May 29, 2023
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Journal: The Tohoku journal of experimental medicine
Published: January 17, 2020
Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Journal: PloS one
Published: July 04, 2018
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Journal: Brain & development
Published: January 09, 2018
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Journal: Human genome variation
Published: October 25, 2017
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Journal: The Tohoku journal of experimental medicine
Published: July 12, 2016
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Last Updated: 09/26/2026