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• Multiomic Dissection of Movement and Neurocognitive Toxicity Following BCMA-Targeting CAR T Therapy

  We report a case of parkinsonism following treatment with ciltacabtagene autoleucel. To investigate underlying mechanisms, we performed a multi-pronged longitudinal analysis using single-cell RNA/TCR-sequencing including both cerebrospinal fluid (CSF) and peripheral blood samples, spanning a time frame over 6 month after CAR T cell therapy.

  Study EGAS50000001634

• A rare CTSC mutation in Papillon-Lefèvre Syndrome

  Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.

  Study EGAS00001005040

• EGAS00001006863

  Targeted DNA-sequencing, whole genome sequencing and whole transcriptome sequencing data on childhood leukaemia patients enrolled on to UK clinical trials (specifically UKALL2003 and UKALL2011).

  Dac EGAC50000000342

• Inserm U1231 GAD TEAM

  This Data Access Committee reviews requests for access to the data submitted by the Inserm U1231 – Team GAD research team.

  Dac EGAC50000000707

• CLUSTER DAC

  The DAC for CLUSTER Consortium datasets relating to JIA and healthy controls RNAseq data and their associated clinical data.

  Dac EGAC50000000426

• Methylation data

  To ellucidate methylation activity in mRCC, methylation data was generated as part of the EuroTarget study

  Dataset EGAD50000002295

• CNCD Recall by Genotypes

  This is a DAC to handle recall by genotype studies by the conducted by the Center for Non-Communicable Disease Karachi, Pakistan.

  Dac EGAC50000000937

• R code

  R code to run analyses on anonymized data from ABACUS for IMvigor010 ctDNA publication.

  Dataset EGAD00001007652

• Pseudogene RNAseq

  RNA sequencing to validate findings of somatic pseudogenes acquired during cancer development

  Dataset EGAD00001000732

• Genetic and Phenotypic Analysis of Multiple Sclerosis in Hispanics

  We sought to identify MS susceptibility variants specific to the Major Histocompatibility Complex and to assess the effect of ancestral risk modification within 2652 Latinx and Hispanic individuals, as well as 2435 Black and African American individuals ascertained in collaboration with the Alliance for Research in Hispanic MS (ARHMS). All DNA samples were obtained through whole blood extraction and were genotyped on the MS Chip, an Illumina Infinium custom genotyping array that contains targeted and dense coverage of the extended MHC, specifically designed for imputation. Classical HLA alleles, SNPs, and amino acid residues were imputed simultaneously from genotyped SNPs using HLA-TAPAS and a multi-ethnic reference panel of 2504 samples from the 1000 Genomes Project. We have identified several novel susceptibility alleles which are rare in European populations including HLA-B*53:01, and we have identified an independent role for HLA-DRB1*15:01 and HLA-DQB1*06:02 on MS risk. We found a decrease in Native American ancestry in MS cases vs controls across the MHC, peaking near the previously identified MICB locus; and we have identified several susceptibility variants for which MS risk is modified by global or local ancestry. We are making data on all genotyped and imputed SNPs, classical HLA alleles, and amino acid residues available through dbGaP for the Hispanic and African American samples utilized in these analyses.

  Study phs003105