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Communications Biology|January 30, 2021
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosaKoji M Nishiguchi, Fuyuki Miya, Yuka Mori, et al.Journal of Human Genetics|July 29, 2018
Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degenerationMasato Akiyama, Atsushi Takahashi, Yukihide Momozawa, 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.Cancer|May 20, 2022
First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumorsMasatoshi Takagi, Chitose Ogawa, Tomoko Iehara, et al.Diabetes Research and Clinical Practice|September 24, 2020
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistanceJun Hosoe, Fuyuki Miya, Hiroko Kadowaki, et al.Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.Nature Genetics|May 29, 2012
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulatorsAkihiro Fujimoto, Yasushi Totoki, Tetsuo Abe, et al.Science Advances|March 25, 2021
De novo ATP1A3 variants cause polymicrogyriaSatoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, et al.Brain : a Journal of Neurology|July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaYuji Nakamura, Issei S Shimada, Reza Maroofian, et al.Pageof 11