Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: COQ4[original query] |
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Skeletal muscle mitochondrial bioenergetics and associations with myostatin genotypes in the Thoroughbred horse. PloS one 2017 12 12 (11): e0186247. Rooney Mary F, Porter Richard K, Katz Lisa M, Hill Emmeline |
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. Journal of human genetics 2019 1 64 (4): 297-304. Lu Mei, Zhou Yulin, Wang Zengge, Xia Zhongmin, Ren Jun, Guo Qiw |
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. International journal of cardiology 2019 1 279 115-121. Imai-Okazaki Atsuko, Kishita Yoshihito, Kohda Masakazu, Mizuno Yosuke, Fushimi Takuya, Matsunaga Ayako, Yatsuka Yukiko, Hirata Tomoko, Harashima Hiroko, Takeda Atsuhito, Nakaya Akihiro, Sakata Yasushi, Kogaki Shigetoyo, Ohtake Akira, Murayama Kei, Okazaki Yasus |
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 |
Ethnically unique disease burden and limitations of current expanded carrier screening panels. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 9 . Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan L |
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