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Showing 171 - 180 of 260 results.

Fundoscopy-directed genetic testing to reevaluate negative whole exome sequencing results

Source:

Orphanet Journal of Rare Diseases

March 3, 2020

Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease.
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients

Source:

Nature

February 29, 2020

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients
JEM women in STEM: Unique journeys with a common purpose

Source:

Journal of Experimental Medicine

February 24, 2020

JEM women in STEM: Unique journeys with a common purpose
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration

Source:

The Lancet

February 1, 2020

Replenishing TCA cycle metabolites via oral supplementation prolongs retinal function and provides a neuroprotective effect on the photoreceptor cells and inner retinal network.
Deregulated Notch and Wnt signaling activates early-stage myeloid regeneration pathways in leukemia

Source:

Journal of Experimental Medicine

January 7, 2020

Targeting commonly altered mechanisms in leukemia can provide additional treatment options.
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations

Source:

Scientific Reports

December 13, 2019

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.

Source:

Cold Spring Harbor Laboratory Press

December 13, 2019

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
In vitro models of neuromuscular junctions and their potential for novel drug discovery and development

Source:

Expert Opinion on Drug Discovery

November 29, 2019

Neuromuscular Junctions (NMJs) are the synapses between motor neurons and skeletal muscle fibers, and they are responsible for voluntary motor function.
These secret battles between your body’s cells might just save your life

Source:

Nature

October 15, 2019

To fight cancer and ageing, biologists are looking at how cells evict, kill or cannibalize less-fit rivals.
New Tools in the Works to Probe Adult Human Neurogenesis

Source:

The Scientist

October 7, 2019

Conflicting results on the existence of new neurons in adults have researchers designing new ways to identify and count neuronal progenitors—and finally get to the bottom of neurogenesis.

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