未登录Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Nimmo, Graeme A. M.; Venkatesh, Sundararajan; Pandey, Ashutosh K.; Marshall, Christian R.; Hazrati, Lili-Naz; Blaser, Susan; Ahmed, Sohnee; Cameron, Jessie; Singh, Kamalendra; Ray, Peter N.; Suzuki, Carolyn K.; Yoon, Grace .png)
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Mohsen; Joseph-George, Ann M.; Keeley, Fred W.; Cook, Ryan A.; Fiume, Marc; Lee, Hin C.; Marshall, Christian R.; Davies, Jill; Hazell, Allison; Buchanan, Janet A.; Szego, Michael J.; Scherer, Stephen W. 分享 收藏 分享 收藏 Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelinesBrzezinski, Jack; Shuman, Cheryl; Choufani, Sanaa; Ray, Peter; Stavropoulos, Dmitiri J.; Basran, Raveen; Steele, Leslie; Parkinson, Nicole; Grant, Ronald; Thorner, Paul; Lorenzo, Armando; Weksberg, Rosanna 分享 收藏 Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissueMolinski, Steven V.; Ahmadi, Saumel; Ip, Wan; Ouyang, Hong; Villella, Adriana; Miller, John P.; Lee, Po-Shun; Kulleperuma, Kethika; Du, Kai; Di Paola, Michelle; Eckford, Paul D. 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Micheil; Stavropoulos, Dimitri J.; Ray, Peter N.; Weksberg, Rosanna 分享 收藏 
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