Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Syndrome and PMM2[original query] |
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Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients. Genetic testing 2001 1 4 (3): 293-7. Erlandson A, Stibler H, Kristiansson B, Wahlström J, Martinsson |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome. Molecular biology reports 2021 Sep . Thakor Jinal M, Parmar Glory, Mistry Kinnari N, Gang Sishir, Rank Dharamshibhai N, Joshi Chaitanya |
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG. Molecular genetics and metabolism reports 2021 7 28 100781. González-Domínguez C A, Villarroel C E, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes L L, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz M E, Mora-Montes H M, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker |
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). Cerebellum (London, England) 2021 2 20 (4): 596-605. Pettinato Fabio, Mostile Giovanni, Battini Roberta, Martinelli Diego, Madeo Annalisa, Biamino Elisa, Frattini Daniele, Garozzo Domenico, Gasperini Serena, Parini Rossella, Sirchia Fabio, Sortino Giuseppe, Sturiale Luisa, Matthijs Gert, Morrone Amelia, Di Rocco Maja, Rizzo Renata, Jaeken Jaak, Fiumara Agata, Barone Ri |
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic. Delaware journal of public health 2022 5 7 (5): 24-27. Kirwin Susan M, Robbins Katherine M, Vinette Kathleen M B, Hirata Lee, Gripp Karen W, Funanage Vicky |
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- Page last updated:May 06, 2024
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