Now showing items 1-10 of 56
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 ...
Timely diagnosis of Wilson's disease using whole exome sequencing
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
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 ...
Neuro-genetic approach for optimisation of the spectrophotometric catalytic determination of cobalt
(Elsevier Science BvAmsterdamHolanda, 2001)
Simultaneous optimization by neuro-genetic approach for analysis of plant materials by laser induced breakdown spectroscopy
(PERGAMON-ELSEVIER SCIENCE LTD, 2009)
A simultaneous optimization strategy based on a neuro-genetic approach is proposed for selection of laser induced breakdown spectroscopy operational conditions for the simultaneous determination of macronutrients (Ca, Mg ...