about
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteinsStructure, expression, and genetic linkage of the mouse BCM1 (OX45 or Blast-1) antigen. Evidence for genetic duplication giving rise to the BCM1 region on mouse chromosome 1 and the CD2/LFA3 region on mouse chromosome 3Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomesPhysical and genetic linkage of the genes encoding Ly-9 and CD48 on mouse and human chromosomes 1The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingHermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)Optimization of Rolling-Circle Amplified Protein Microarrays for Multiplexed Protein ProfilingHigh-throughput genotyping of single nucleotide polymorphisms with rolling circle amplificationClinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismGene expression-based classifiers identify Staphylococcus aureus infection in mice and humansAlternative isoform regulation in human tissue transcriptomesMMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesEarly-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsA patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesCloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoformsComprehensive human genome amplification using multiple displacement amplification.A host-based RT-PCR gene expression signature to identify acute respiratory viral infectionGene expression signatures diagnose influenza and other symptomatic respiratory viral infections in humansTemporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection.A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2.Measuring proteins on microarrays.5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum.A 6000 kb segment of chromosome 1 is conserved in human and mouse.Multiplex PCR to diagnose bloodstream infections in patients admitted from the emergency department with sepsis.Management of High-Throughput DNA Sequencing Projects: Alpheus.Human ribonuclease A superfamily members, eosinophil-derived neurotoxin and pancreatic ribonuclease, induce dendritic cell maturation and activationGenome-wide association studies: progress and potential for drug discovery and development.A highly annotated whole-genome sequence of a Korean individual.Development of a phylogenetic tree model to investigate the role of genetic mutations in endometrial tumors.Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Glycogen synthase: a putative locus for diet-induced hyperglycemia.The human myeloid cell nuclear differentiation antigen gene is one of at least two related interferon-inducible genes located on chromosome 1q that are expressed specifically in hematopoietic cells.Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.Integrative "omic" analysis of experimental bacteremia identifies a metabolic signature that distinguishes human sepsis from systemic inflammatory response syndromesCLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaA 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseasesSepsis progression and outcome: a dynamical model.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Stephen F Kingsmore
@ast
Stephen F Kingsmore
@en
Stephen F Kingsmore
@es
Stephen F Kingsmore
@nl
Stephen F Kingsmore
@sl
type
label
Stephen F Kingsmore
@ast
Stephen F Kingsmore
@en
Stephen F Kingsmore
@es
Stephen F Kingsmore
@nl
Stephen F Kingsmore
@sl
prefLabel
Stephen F Kingsmore
@ast
Stephen F Kingsmore
@en
Stephen F Kingsmore
@es
Stephen F Kingsmore
@nl
Stephen F Kingsmore
@sl
P106
P21
P31
P496
0000-0001-7180-2527