نتائج البحث - Lan Ying Shi
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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration حسب Lihong Zhao, Stefka D. Spassieva, Kenneth Gable, Sita D. Gupta, Lan-Ying Shi, Jieping Wang, Jacek Bielawski, Wanda L. Hicks, Mark P. Krebs, Juergen K. Naggert, Yusuf A. Hannun, Teresa Dunn, Patsy M. Nishina
منشور في 2015Artigo -
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Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease حسب Scott H. Greenwald, Jeremy R. Charette, Magdalena Staniszewska, Lan Ying Shi, Steve D. M. Brown, Lisa Stone, Qin Liu, Wanda L. Hicks, Gayle B. Collin, Michael R. Bowl, Mark P. Krebs, Patsy M. Nishina, Eric A. Pierce
منشور في 2016Artigo -
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity حسب Nicole T.M. Saksens, Mark P. Krebs, Frederieke E. Schoenmaker-Koller, Wanda L. Hicks, Minzhong Yu, Lan-Ying Shi, Lucy B. Rowe, Gayle B. Collin, Jeremy R. Charette, Stef J.F. Letteboer, Kornelia Neveling, Tamara W van Moorsel, Sleiman Abu-Ltaif, Elfride De Baere, Sophie Walraedt, Sandro Banfi, Francesca Simonelli, Frans P.M. Cremers, Camiel J.F. Boon, Ronald Roepman, Bart P. Leroy, Neal S. Peachey, Carel B. Hoyng, Patsy M. Nishina, Anneke I. den Hollander
منشور في 2015Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Disease
Gene
Cell biology
Genetics
Pathology
Allele
Biochemistry
Bioinformatics
Computational biology
Context (archaeology)
Dystrophy
Ecology
Enzyme
Human disease
Internal medicine
Key (lock)
Missense mutation
Model organism
Multinucleate
Mutation
Neurodegeneration
Neuroscience
Optometry
Paleontology
Phenotype
Protein subunit
Retina
Retinal pigment epithelium