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Toplam kayıt 35, listelenen: 31-35
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 ...
Predominance of Null Mutations in Ataxia-Telangiectasia
(Oxford Univ Press, 1996)
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently ...
Erlin1 Mutations Cause Teenage-Onset Slowly Progressive Als In A Large Turkish Pedigree
(Nature Publishing Group, 2018)
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to ...
Intelligent Polymers as Nonviral Vectors
(Nature Publishing Group, 2005)
The successful gene therapy largely depends on the vector type that allows a selective and efficient gene delivery to target cells with minimal toxicity. Nonviral vectors are much safer and cheaper, can be produced easily ...
Homozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
(Cold Spring Harbor Lab Press, Publications Dept, 2011)
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...