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Journal of Medical Genetics|September 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, et al.
Science Advances|January 22, 2025
Significance of birth in the maintenance of quiescent neural stem cellsKoya Kawase, Yasuhisa Nakamura, Laura Wolbeck, et al.
Parkinsonism & Related Disorders|April 15, 2018
Phenotype variability and allelic heterogeneity in KMT2B-Associated diseaseToshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, et al.
BMC Medical Genetics|January 15, 2017
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyYutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.
The Journal of Clinical Endocrinology and Metabolism|August 20, 2021
Association of Maternal Total Cholesterol With SGA or LGA Birth at Term: the Japan Environment and Children's StudyKayo Kaneko, Yuki Ito, Takeshi Ebara, et al.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.
Biorxiv : the Preprint Server for Biology|February 14, 2024
High Shear Stress Reduces ERG Causing Endothelial-Mesenchymal Transition and Pulmonary Arterial HypertensionTsutomu Shinohara, Jan-Renier Moonen, Yoon Hong Chun, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|December 26, 2024
High Shear Stress Reduces ERG Causing Endothelial-Mesenchymal Transition and Pulmonary Arterial HypertensionTsutomu Shinohara, Jan-Renier Moonen, Yoon Hong Chun, et al.
Scientific Reports|June 16, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvementIkumi Hori, Takanobu Otomo, Mitsuko Nakashima, et al.
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