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Neuropediatrics|April 19, 2023
Efficacy of Antiseizure Medications in Wolf-Hirschhorn SyndromeAyumi Horiguchi, Reiko Koichihara, Kenjiro Kikuchi, et al.
Human Molecular Genetics|October 17, 2015
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotypeMitsuji Moriya, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, et al.
Human Molecular Genetics|July 19, 2014
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndromeShin-Ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, et al.
Scientific Reports|October 12, 2022
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)Yohei Masunaga, Gen Nishimura, Koji Takahashi, et al.
Pediatric Blood & Cancer|December 26, 2025
Clinical Significance of Molecular Genetic Analysis in Diffuse Intrinsic Pontine Glioma: Two Case ReportsItsuki Inamine, Kohei Fukuoka, Kayoko Ichimura, et al.
Molecular Cell|November 18, 2017
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote OsteoporosisHidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalitiesYuko Watanabe, Kosuke Shido, Tetsuya Niihori, et al.
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