Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: PDHA1[original query] |
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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing. CNS neuroscience & therapeutics 2018 5 25 (1): 21-29. Dong Hai-Lin, Ma Yin, Li Quan-Fu, Du Yi-Chu, Yang Lu, Chen Sheng, Wu Zhi-Yi |
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. European journal of medical genetics 2020 4 63 (8): 103898. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wu Bingbing, Wang |
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. Journal of clinical pathology 2020 10 75 (1): 34-38. Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tra |
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients. Orphanet journal of rare diseases 2020 10 15 (1): 298. Pavlu-Pereira Hana, Silva Maria João, Florindo Cristina, Sequeira Sílvia, Ferreira Ana Cristina, Duarte Sofia, Rodrigues Ana Luísa, Janeiro Patrícia, Oliveira Anabela, Gomes Daniel, Bandeira Anabela, Martins Esmeralda, Gomes Roseli, Soares Sérgia, Tavares de Almeida Isabel, Vicente João B, Rivera Isab |
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022 Aug . Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells C F, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve |
Identification of the prognostic signature based on genomic instability-related alternative splicing in colorectal cancer and its regulatory network. Frontiers in bioengineering and biotechnology 2022 8 10 841034. Ding Qiuying, Hou Zhengping, Zhao Zhibo, Chen Yao, Zhao Lei, Xiang Y |
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype. Pediatric endocrinology, diabetes, and metabolism 2022 5 28 (2): 141-151. Wesó?-Kucharska Dorota, Rokicki Dariusz, Greczan Milena, Kaczor Magdalena, Czeku?-Kry?kiewicz Edyta, Piekutowska-Abramczuk Dorota, Halat-Wolska Paulina, Ciara El?bieta, Jaworski Maciej, Jezela-Stanek Aleksand |
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing. NPJ genomic medicine 2022 May 7 (1): 31. Yang Ying, Zhao Sheng, Sun Guoqiang, Chen Fang, Zhang Tongda, Song Jieping, Yang Wenzhong, Wang Lin, Zhan Nianji, Yang Xiaohong, Zhu Xia, Rao Bin, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Ye Jingyu, Huang Hui, Cheng Chen, Zhu Shida, Guo Jian, Xu Xun, Chen Xinl |
A novel cuproptosis-related gene signature of prognosis and immune microenvironment in head and neck squamous cell carcinoma cancer. Journal of cancer research and clinical oncology 2022 11 149 (1): 203-218. Jiang Xu, Ke Jing, Jia Lifeng, An Xiang, Ma Haiyu, Li Zhongwan, Yuan W |
Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants. Molecular neurobiology 2023 3 . Chaves Luiza D, Carvalho Laura M L, Tolezano Giovanna C, Pires Sara F, Costa Silvia S, de Scliar Marília O, Giuliani Liane de R, Bertola Debora R, Santos-Rebouças Cíntia B, Seo Go Hun, Otto Paulo A, Rosenberg Carla, Vianna-Morgante Angela M, Krepischi Ana C |
Potential impact of cuproptosis-related genes on tumor immunity in esophageal carcinoma. Aging 2023 12 15 (24): 15535-15556. Pengfei Guo, Zemiao Niu, Dengfeng Zhang, Fangchao Zhao, Jing Li, Tianxing Lu, Xuebo Qin, Shiquan Liu, Zhirong Li, Yishuai Li, Shujun |
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine 2023 12 99 104928. Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen |
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia. International journal of molecular sciences 2023 1 24 (2): . Kistol Denis, Tsygankova Polina, Krylova Tatiana, Bychkov Igor, Itkis Yulia, Nikolaeva Ekaterina, Mikhailova Svetlana, Sumina Maria, Pechatnikova Natalia, Kurbatov Sergey, Bostanova Fatima, Migiaev Ochir, Zakharova Ekateri |
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study. Scientific reports 2024 4 14 (1): 8411. Hanan Alsehli, Saeed Mastour Alshahrani, Shatha Alzahrani, Farouq Ababneh, Nawal Mashni Alharbi, Nassebah Alarfaj, Duaa Baarm |
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- Page last updated:Apr 22, 2024
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