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Neurogenomics – Multimedia

Severe Combined Immunodeficiency (SCID) caused by thymic aplasia due to a mutation in TBX1 content piece image
Poster

Severe Combined Immunodeficiency (SCID) caused by thymic aplasia due to a mutation in TBX1

We report one of the first cases of TBX1 haploinsufficiency causing complete thymic aplasia and SCID.
Beautiful Brain Images content piece image
Listicle

Beautiful Brain Images

Depicting some of the most beautiful images of the brain: from Santiago Ramón y Cajal’s detailed drawings; to see-through brains with CLARITY; to looking inside the human head with MRI.
Detection of RNA in the central and peripheral nervous system using the RNAscope® in situ hybridization assay content piece image
App Note / Case Study

Detection of RNA in the central and peripheral nervous system using the RNAscope® in situ hybridization assay

The RNAscope® in situ hybridization (ISH) assay provides a powerful method to detect gene expression within the spatial and morphological tissue context.
Differences in the Neurophysiology of Infants with Down Syndrome May Predict Protective/Risk Markers for Subsequent Alzheimer’s Disease content piece image
Poster

Differences in the Neurophysiology of Infants with Down Syndrome May Predict Protective/Risk Markers for Subsequent Alzheimer’s Disease

Our work set out to understand early individual differences in memory abilities of infants with DS that may be predictive of subsequent cognitive phenotypes of AD.
Digital PCR to Determine the Number of Transcripts from Single Neurons after Patch-clamp Recording content piece image
Poster

Digital PCR to Determine the Number of Transcripts from Single Neurons after Patch-clamp Recording

Whole-cell patch-clamp recording enables detecting electrophysiological signals from neurons, and RNA can be harvested into the patch pipette from the cells.We have optimized a dPCR protocol for determining exact transcript numbers in single neurons after patch-clamp recording by using dPCR based on high-density nanocapillary PCR.
Biomarker Discovery Strategy for Trisomy 21 Using iTRAQ and 4800 Plus MALDI TOF/TOF content piece image
Poster

Biomarker Discovery Strategy for Trisomy 21 Using iTRAQ and 4800 Plus MALDI TOF/TOF

Plasma proteins serve as good indicators of disease as there are representative proteins from several cellular processes and thus a potential source for biomarker discovery. The large dynamic range of plasma proteins makes the analysis very challenging, as a large number of low abundance proteins are masked by a few high abundance proteins.
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