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A PCR-Based Method to Genotype Mice Knocked Out for All Four CD3 Subunits, the Standard Recipient Strain for Retrogenic TCR/CD3 Bone Marrow Reconstitution Technology.

artículo científico publicado en 2013

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

artículo científico publicado en 2020

Anion exchanger 2 is critical for CD8(+) T cells to maintain pHi homeostasis and modulate immune responses

scientific article published on 11 March 2014

CD8+ T cells undergo activation and programmed death-1 repression in the liver of aged Ae2a,b-/- mice favoring autoimmune cholangitis

artículo científico publicado en 2015

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias

scientific article published on 27 June 2019

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

artículo científico publicado en 2018

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

artículo científico publicado en 2020

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

artículo científico publicado en 2018

Slow angled-descent forepaw grasping (SLAG): an innate behavioral task for identification of individual experimental mice possessing functional vision

artículo científico publicado en 2013

The early proximal αβ TCR signalosome specifies thymic selection outcome through a quantitative protein interaction network

scientific article published on 01 February 2019

Three rare disease diagnoses in one patient through exome sequencing

scientific article published on 13 December 2019

Variants in DOCK3 cause developmental delay and hypotonia

artículo científico publicado en 2019