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Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.Nucleic Acids Research|December 1, 2022
Structural basis of transcription regulation by CNC family transcription factor, Nrf2Toru Sengoku, Masaaki Shiina, Kae Suzuki, et al.Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.Scientific Reports|June 16, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL associationRie Seyama, Masashi Nishikawa, Yuri Uchiyama, et al.The Journal of Clinical Investigation|April 1, 2024
Hepatocyte-specific CCAAT/enhancer binding protein α restricts liver fibrosis progressionTingting Yan, Nana Yan, Yangliu Xia, et al.Hepatology (Baltimore, Md.)|April 23, 2022
Intestinal peroxisome proliferator-activated receptor α-fatty acid-binding protein 1 axis modulates nonalcoholic steatohepatitisTingting Yan, Yuhong Luo, Nana Yan, 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.Pageof 10