14667 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

in 10.44 milliseconds.

• Molecular phenotyping of MCA/ID patients to improve diagnosis

  De novo structural variants are frequently identified in individuals with neurodevelopmental disorders, but the genes driving their phenotypes are often unknown. In this study we performed Whole Genome Sequencing, RNA-sequencing and ATAC-sequencing on samples of 51 patients with intellectual disability and/or multiple congenital anomalies and their biological parents (when available). The goals of the study were to gain more insights in the molecular consequences of (complex) genomic rearrangements and to improve the genetic diagnosis of patients carrying such rearrangements. Data is divided in four separate datasets based on type of source material and data access restrictions due to consent.

  Study EGAS00001003489

• LUD2015-005 Trial Data Access Committee

  Dac EGAC00001002863

• THE NOWAC BLOOD-BREAST CANCER COMMITEE DATA ACCESS AGREEMENT

  Dac EGAC00001000743

• Board considering access to van Hijfte snRNA-seq GBM dataset

  Dac EGAC00001003044

• Genomics of MPNST (GeM) Consortium Data Access Committee

  Dac EGAC00001002563

• Thirant et al Nature Communications 2023 Data Access Commitee

  Dac EGAC00001003192

• European Network of Genomic and Genetic Epidemiology Data Access Committee

  Dac EGAC00000000008

• "Data Access Center Cancer Genomics Group"

  Dac EGAC00001000030

• Cancer Genome Database Data Access Committee (CGDB_DAC)

  Dac EGAC00001000033

• Signal Transduction Team ICR (2011) Data Access Committee

  Dac EGAC00001000040