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Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
(Cambridge University Press, 2015-01)
As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information ...
Neurogenetics in Peru: clinical, scientific and ethical perspectives
(Springer, 2015)
Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the ...
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
(Public Library of Science, 2018-02)
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous studies have provided ...
Hicka,’s dictum on a case of progressive weakness and hypermobility: a double genetic hit disorder
(Wiley-Blackwell, 2022-07-01)
Neurogenetic algorithm applied to Route Planning for Autonomous Mobile Robots
(Ieee, 2018-01-01)
We developed a bioinspired algorithm to assist in the navigation of an autonomous mobile robot in dynamic environments. The robotic controller uses both an Artificial Neural Network (ANN) and a Genetic Algorithm (GA), aided ...
Neurogenetic algorithm applied to Route Planning for Autonomous Mobile Robots
(2018-10-10)
We developed a bioinspired algorithm to assist in the navigation of an autonomous mobile robot in dynamic environments. The robotic controller uses both an Artificial Neural Network (ANN) and a Genetic Algorithm (GA), aided ...
Timely diagnosis of Wilson's disease using whole exome sequencing
(Elsevier, 2015-11)
Wilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis ...
CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample
(2009)
To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene ...