Resultats de la cerca - Keshika Prematilake
- Mostrar 1 - 2 resultats de 2
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1
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction per Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
Publicat 2017Artigo -
2
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy per Austin Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
Publicat 2018Artigo
Eines de cerca:
Matèries relacionades
Biology
Gene
Genetics
Internal medicine
Medicine
Mutation
Anatomy
Cell
Compound heterozygosity
Congenital muscular dystrophy
Dystroglycan
Encephalopathy
Endocrinology
Endoplasmic reticulum
Golgi apparatus
Hypotonia
Laminin
Limb-girdle muscular dystrophy
Microcephaly
Muscle weakness
Muscular dystrophy
Myopathy
Neuroscience
Pathology
Phenotype
Physical medicine and rehabilitation
Spasticity