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Brain & Development|May 13, 2018
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhoodKohji Kato, Seiji Mizuno, Mie Inaba, et al.
Experimental Neurology|December 12, 2025
Hydrogen gas promotes neuroprotection and upregulates ATF5 expression in neonatal hypoxic-ischemic brain injuryShinji Nakamura, Yasuhisa Nakamura, Hideo Jinnou, et al.
Nutrients|February 24, 2024
Antenatal Growth, Gestational Age, Birth, Enteral Feeding, and Blood Citrulline Levels in Very Low Birth Weight InfantsMidori Obayashi, Sachiko Iwata, Tomoya Okuda, et al.
Human Genome Variation|April 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variantToshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi, et al.
Brain & Development|January 27, 2012
Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical courseYumi Takahashi, Minako Sugiyama, Yuki Ueda, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphologyNobuhiko Okamoto, Yuki Tsuchiya, Fuyuki Miya, et al.
Clinical Epigenetics|October 23, 2020
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndromeKaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, et al.
Neurogenetics|August 1, 2012
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominanceYoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, et al.
Molecular and Cellular Biology|July 17, 2024
Transcription Factor 23 is an Essential Determinant of Murine Term ParturitionFatma M Minisy, Hossam H Shawki, Tsubasa Fujita, et al.
The Science of the Total Environment|November 13, 2020
Cumulative exposure assessment of neonicotinoids and an investigation into their intake-related factors in young children in JapanNaoko Oya, Yuki Ito, Takeshi Ebara, et al.
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