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Brain & Development|February 16, 2026
Clinical profiles of tuberous sclerosis complex: A regionally based surveyMisae Yamada, Jun Natsume, Yuki Maki, et al.Epilepsia|May 16, 2008
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancyJi-wen Wang, Hirokazu Kurahashi, Atsushi Ishii, et al.Diagnostics (Basel, Switzerland)|September 9, 2023
A Brain Morphometry Study with Across-Site Harmonization Using a ComBat-Generalized Additive Model in Children and AdolescentsTadashi Shiohama, Norihide Maikusa, Masahiro Kawaguchi, et al.Plos One|June 12, 2019
Correction: Treatment with silver nitrate versus topical steroid treatment for umbilical granuloma: A non-inferiority randomized control trialChikako Ogawa, Yoshiaki Sato, Chiyo Suzuki, et al.Plos One|February 14, 2018
Treatment with silver nitrate versus topical steroid treatment for umbilical granuloma: A non-inferiority randomized control trialChikako Ogawa, Yoshiaki Sato, Chiyo Suzuki, et al.Human Mutation|March 25, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficultiesJunpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, et al.Journal of the Neurological Sciences|March 25, 2023
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndromeShin Nabatame, Junpei Tanigawa, Koji Tominaga, et al.The Journal of Allergy and Clinical Immunology|March 17, 2021
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitorShinsuke Kataoka, Nozomu Kawashima, Yusuke Okuno, et al.American Journal of Medical Genetics. Part A|February 24, 2021
Whole genome sequencing of 45 Japanese patients with intellectual disabilityChihiro Abe-Hatano, Aritoshi Iida, Shunichi Kosugi, et al.Scientific Reports|August 26, 2022
Whole-exome analysis of 177 pediatric patients with undiagnosed diseasesKotaro Narita, Hideki Muramatsu, Satoshi Narumi, et al.Pageof 14