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Elife|August 23, 2024
Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophyYohei Nitta, Jiro Osaka, Ryuto Maki, et al.Human Molecular Genetics|January 7, 2023
Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsAYohei Nitta, Hiroki Kawai, Ryuto Maki, et al.European Journal of Medical Genetics|June 27, 2023
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidencesMamiko Yamada, Yohei Nitta, Tomoko Uehara, et al.European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.Frontiers in Genetics|April 11, 2024
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotypeTakaya Iida, Arisa Igarashi, Kae Fukunaga, et al.Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.Human Molecular Genetics|August 4, 2021
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormalityMasamune Sakamoto, Kazunori Sasaki, Atsushi Sugie, et al.Nature Communications|June 1, 2024
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humansSamuel D Chauvin, Shoichiro Ando, Joe A Holley, et al.Pageof 2