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pro vyhledávání: '"R E, Amir"'
Publikováno v:
Journal of Child Neurology. 20:779-783
Publikováno v:
The Journal of sports medicine and physical fitness. 49(1)
This study was designed to analyze serum oxidative stress (OS) levels in healthy young individuals performing a routine maximal aerobic exercise and to evaluate the correlation between OS levels and physiological parameters.Serum OS levels were studi
Autor:
R E, Amir, H Y, Zoghbi
Publikováno v:
American journal of medical genetics. 97(2)
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that manifests in females, typically after the first year of life. It is a leading cause of mental retardation and autistic behavior in girls and women; a hallmark of the disease
Autor:
R E, Amir, I B, Van den Veyver, R, Schultz, D M, Malicki, C Q, Tran, E J, Dahle, A, Philippi, L, Timar, A K, Percy, K J, Motil, O, Lichtarge, E O, Smith, D G, Glaze, H Y, Zoghbi
Publikováno v:
Annals of neurology. 47(5)
We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations