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ProteomicsNUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome
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
Pulldown Nudcd3 Proteomics Omenn syndrome 
UnknownLand Tenure, Ownership and Use as Barriers to Coastal Wetland Restoration Projects in Australia: Recommendations and Solutions.
Not available
S-EPMC10220139 | biostudies-literature
UnknownPriorities for research in miscarriage: a priority setting partnership between people affected by miscarriage and professionals following the James Lind Alliance methodology.
Not available
S-EPMC5629698 | biostudies-literature
TranscriptomicsV(D)J TCR single cell sequencing of mucosal pinch biopsies from patients with ulcerative colitis and primary sclerosing cholangitis concomitant with colitis
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 
2026-06-17 | E-MTAB-14899 | biostudies-arrayexpress
TranscriptomicsV(D)J BCR single cell sequencing of mucosal pinch biopsies from patients with ulcerative colitis and primary sclerosing cholangitis concomitant with colitis
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 
2026-06-17 | E-MTAB-14901 | biostudies-arrayexpress
UnknownCognitive Motor Dissociation in Disorders of Consciousness.
Not available
S-EPMC7617195 | biostudies-literature
UnknownCharacteristics of officer-involved vehicle collisions in California.
Not available
S-EPMC4748714 | biostudies-literature
UnknownOvercoming Challenges to Evidence-Based Policy Development in a Large, Integrated Delivery System.
Not available
S-EPMC6232400 | biostudies-literature
UnknownIndigenous Land and Sea Management Programs (ILSMPs) Enhance the Wellbeing of Indigenous Australians.
Not available
S-EPMC6981778 | biostudies-literature
UnknownHigh-value decisions are fast and accurate, inconsistent with diminishing value sensitivity.
Not available
S-EPMC8832986 | biostudies-literature
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