Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: DBT[original query] |
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Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders. Translational psychiatry 2016 6 (7): e855. Homs A, Codina-Solà M, Rodríguez-Santiago B, Villanueva C M, Monk D, Cuscó I, Pérez-Jurado L |
"Omics" data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy. BMC medical genomics 2018 12 11 (1): 110. Campbell Nzali V, Weitzenkamp David A, Campbell Ian L, Schmidt Ronald F, Hicks Chindo, Morgan Michael J, Irwin David C, Tentler John |
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. Metabolic brain disease 2018 1 33 (3): 741-751. Li Xiaomei, Yang Yali, Gao Qing, Gao Min, Lv Yvqiang, Dong Rui, Liu Yi, Zhang Kaihui, Gai Zhongt |
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. Orphanet journal of rare diseases 2020 11 15 (1): 309. Margutti Ana Vitoria Barban, Silva Wilson Araújo, Garcia Daniel Fantozzi, de Molfetta Greice Andreotti, Marques Adriana Aparecida, Amorim Tatiana, Prazeres Vânia Mesquita Gadelha, Boy da Silva Raquel Tavares, Miura Irene Kazue, Seda Neto João, Santos Emerson de Santana, Santos Mara Lúcia Schmitz Ferreira, Lourenço Charles Marques, Tonon Tássia, Sperb-Ludwig Fernanda, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Döederlein, Camelo José Sim |
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population. Scientific reports 2021 9 11 (1): 18939. Fang Xiaohua, Zhu Xiaofan, Feng Yin, Bai Ying, Zhao Xuechao, Liu Ning, Kong Xiangdo |
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. Laboratory medicine 2022 6 53 (6): 596-601. Alijanpour Morteza, Jazayeri Omid, Soleimani Amiri Shima, Brosens Erw |
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 |
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