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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.Translational Psychiatry|March 27, 2025
A hyper-activatable CAMK2A variant associated with intellectual disability causes exaggerated long-term potentiation and learning impairmentsMiao Pan, Pin-Wu Liu, Yukihiro Ozawa, et al.Scientific Reports|August 26, 2022
Whole-exome analysis of 177 pediatric patients with undiagnosed diseasesKotaro Narita, Hideki Muramatsu, Satoshi Narumi, et al.The Pediatric Infectious Disease Journal|July 30, 2024
Clinical Practice Guidelines for the Management of Congenital Cytomegalovirus Infection in Japan 2023: Executive SummaryYoshinori Ito, Ichiro Morioka, Naoto Takahashi, et al.Pageof 13