Sort   by:  
 Page size 
Ectopic calcification in synovial tissues is devastating to diarthrodial joints. While some forms of synovial ectopic calcification have genetically simple basis, most cases manifest as complex traits with environmental and multigenic components. The location of causal loci or the physiological proc...
ORGANISM(S): Mus musculus 
Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 9 affected patients across 3 consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain containing 3 (NUD...
ORGANISM(S): Homo sapiens (Human) 
2024-09-27 | PXD035840 | Pride
Mucosal pinch biopsies from ascending, transverse, descending colon and rectum were obtained from ulcerative colitis (UC) and primary sclerosing cholangitis concomitant with colitis (PSC-UC) patients during routine endoscopies and subjected to 5' single-cell RNA sequencing with V(D)J TCR analysis
ORGANISM(S): Homo sapiens 
Mucosal pinch biopsies from ascending, transverse, descending colon and rectum were obtained from ulcerative colitis (UC) and primary sclerosing cholangitis concomitant with colitis (PSC-UC) patients during routine endoscopies and subjected to 5' single-cell RNA sequencing with V(D)J BCR analysis
ORGANISM(S): Homo sapiens 
The molecular pathogenesis of autism is complex and involves numerous genomic, epigenomic, proteomic, metabolic, and physiological alterations. Elucidating and understanding the molecular processes underlying the pathogenesis of autism is critical for effective clinical management and prevention of...
ORGANISM(S): Mus musculus 
We have generated human induced Pluripotent Stem cells (hiPSc) from Parkinson's Disease patients, using retrovirus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and ...
ORGANISM(S): Homo sapiens 
Sort   by:  
 Page size