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Functional Analysis Of A Duplication (P.E63_D69Dup) In The Switch Ii Region Of Hras: New Aspects Of The Molecular Pathogenesis Underlying Costello Syndrome
(Oxford Univ Press, 2013)
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...
In Vivo Application Of Poly-3-Hydroxyoctanoate As Peripheral Nerve Graft
(Zhejiang Univ, 2013)
Objective: This study aims to investigate the degree of biocompatibility and neuroregeneration of a polymer tube, poly-3-hydroxyoctanoate (PHO) in nerve gap repair. Methods: Forty Wistar Albino male rats were randomized ...