Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: SUCLG1[original query] |
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Journal of inherited metabolic disease 2015 Oct . Carrozzo Rosalba, Verrigni Daniela, Rasmussen Magnhild, de Coo Rene, Amartino Hernan, Bianchi Marzia, Buhas Daniela, Mesli Samir, Naess Karin, Born Alfred Peter, Woldseth Berit, Prontera Paolo, Batbayli Mustafa, Ravn Kirstine, Joensen Fróði, Cordelli Duccio M, Santorelli Filippo Maria, Tulinius Mar, Darin Niklas, Duno Morten, Jouvencel Philippe, Burlina Alberto, Stangoni Gabriela, Bertini Enrico, Redonnet-Vernhet Isabelle, Wibrand Flemming, Dionisi-Vici Carlo, Uusimaa Johanna, Vieira Paivi, Osorio Andrés Nascimento, McFarland Robert, Taylor Robert W, Holme Elisabeth, Ostergaard Elseb |
Elucidation of the genetic and epigenetic landscape alterations in RNA binding proteins in glioblastoma. Oncotarget 2016 12 8 (10): 16650-16668. Bhargava Shruti, Patil Vikas, Mahalingam Kulandaivelu, Somasundaram Kumarav |
Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A". Molecular genetics and metabolism reports 2018 12 18 10. Chinopoulos Christos, Wevers Ron A, Waterham Hans R, Zafeiriou Dimitri |
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. Journal of inherited metabolic disease 2019 10 43 (3): 409-423. Kang Lulu, Liu Yupeng, Shen Ming, Liu Yi, He Ruxuan, Song Jinqing, Jin Ying, Li Mengqiu, Zhang Yao, Dong Hui, Liu Xueqin, Yan Hui, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Zhang Huifeng, Sun Liying, Zhu Zhijun, Liang Desheng, Yang Yanli |
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. The Journal of pediatrics 2021 5 236 124-130. Hegarty Robert, Gibson Philippa, Sambrotta Melissa, Strautnieks Sandra, Foskett Pierre, Ellard Sian, Baptista Julia, Lillis Suzanne, Bansal Sanjay, Vara Roshni, Dhawan Anil, Grammatikopoulos Tassos, Thompson Richard |
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. Mitochondrion 2021 1 57 205-212. Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E |
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 |
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