Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: TBCK[original query] |
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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. Muscle & nerve 2020 5 62 (2): 266-271. Saredi Simona, Cauley Edmund S, Ruggieri Alessandra, Spivey Tyler M, Ardissone Anna, Mora Marina, Moroni Isabella, Manzini M Chia |
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. Journal of human genetics 2021 5 66 (11): 1061-1068. Miyamoto Sachiko, Kato Mitsuhiro, Hiraide Takuya, Shiohama Tadashi, Goto Tomohide, Hojo Akira, Ebata Akio, Suzuki Manabu, Kobayashi Kozue, Chong Pin Fee, Kira Ryutaro, Matsushita Hiroko Baber, Ikeda Hiroko, Hoshino Kyoko, Matsufuji Mayumi, Moriyama Nobuko, Furuyama Masayuki, Yamamoto Tatsuya, Nakashima Mitsuko, Saitsu Hiroto |
Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma. Frontiers in oncology 2021 5 11 596789. Gao Jian, Xi Lei, Yu Rentao, Xu Huailong, Wu Min, Huang Ho |
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. American journal of medical genetics. Part A 2023 6 . Divya Nair, Abdias Diaz-Rosado, Elisa Varella-Branco, Igor Ramos, Aaron Black, Rajesh Angireddy, Joseph Park, Svathi Murali, Andrew Yoon, Brianna Ciesielski, W Timothy O'Brien, Maria Rita Passos-Bueno, Elizabeth Bh |
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- Page last updated:Apr 16, 2024
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