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Legal Medicine (Tokyo, Japan)|October 19, 2018
Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complexTakeshi Kondo, Yo Niida, Masashi Mizuguchi, et al.
Brain & Development|February 6, 2016
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1Yo Niida, Ayano Yokoi, Mondo Kuroda, et al.
The Journal of Dermatology|December 2, 2025
A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK GeneSawako Ochiai, Hiroto Ono, Akira Shimizu, et al.
Endocrine Journal|April 28, 2021
A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypesShoko Asano, Saori Sako, Yuka Funasaki, et al.
Pediatric Research|November 23, 2018
B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)Ayano Yokoi, Yo Niida, Mondo Kuroda, et al.
Human Genome Variation|February 23, 2019
A novel PHEX mutation associated with vitamin D-resistant ricketsSaori Sako, Yo Niida, Kosuke Robert Shima, et al.
Frontiers in Immunology|October 30, 2023
An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow cultureShintaro Matsuba, Hiroki Ura, Fumiji Saito, et al.
Pediatric Blood & Cancer|October 12, 2013
Intermittent X-linked thrombocytopenia with a novel WAS gene mutationTaizo Wada, Masatsune Itoh, Hideaki Maeba, et al.
Brain & Development|November 4, 2019
Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variantsYukiko Hata, Yuko Oku, Hiromichi Taneichi, et al.
The Journal of Dermatology|May 12, 2023
Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature reviewHiroto Ono, Reimon Yamaguchi, Minako Arai, et al.
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