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• Targeted capture ctDNA Library CRCQV42Run034-14

  Targeted capture ctDNA Library CRCQV42Run034-14 from patient PBC0004414, buffy coat sample

  Dataset EGAD00001010568

• Targeted capture ctDNA Library CRCQV42Run039-6

  Targeted capture ctDNA Library CRCQV42Run039-6 from patient PBC0002853, plasma baseline sample

  Dataset EGAD00001010622

• Targeted capture ctDNA Library CRCQV42Run039-8

  Targeted capture ctDNA Library CRCQV42Run039-8 from patient PBC0003334, plasma baseline sample

  Dataset EGAD00001010624

• Targeted capture ctDNA Library CRCQV42Run047-6

  Targeted capture ctDNA Library CRCQV42Run047-6 from patient PBC0001255, buffy coat sample

  Dataset EGAD00001010738

• Targeted capture ctDNA Library CRCQV42Run048-24

  Targeted capture ctDNA Library CRCQV42Run048-24 from patient PBC0005531, buffy coat sample

  Dataset EGAD00001010756

• Targeted capture ctDNA Library CRCQV42Run049-22

  Targeted capture ctDNA Library CRCQV42Run049-22 from patient PBC0002481, buffy coat sample

  Dataset EGAD00001010775

• Targeted capture ctDNA Library CRCQV42Run049-23

  Targeted capture ctDNA Library CRCQV42Run049-23 from patient PBC0001409, buffy coat sample

  Dataset EGAD00001010776

• Targeted capture ctDNA Library CRCQV42Run049-4

  Targeted capture ctDNA Library CRCQV42Run049-4 from patient PBC0004537, buffy coat sample

  Dataset EGAD00001010777

• Targeted capture ctDNA Library CRCQV42Run050-19

  Targeted capture ctDNA Library CRCQV42Run050-19 from patient PBC0001527, buffy coat sample

  Dataset EGAD00001010792

• Targeted capture ctDNA Library CRCQV42Run051-19

  Targeted capture ctDNA Library CRCQV42Run051-19 from patient PBC0002294, buffy coat sample

  Dataset EGAD00001010812

• SNF_RNAseq_CD138n_20f

  TPM matrices of counts from RNA sequencing (RNAseq) from baseline CD138(–) BM fractions.

  Dataset EGAD00001011142

• Reference epigenome ADMSC04_smRNA-Seq data generated from KEP study

  A ADMSC04_smRNA-Seq single end data for adipose-derived mesenchymal stroaml cells

  Dataset EGAD00001003870

• Reference epigenome CKD27_C_Mesan_WGBS data generated from KEP study

  A CKD27_C_Mesan_WGBS paired end data for Mesangial cells(kidney)

  Dataset EGAD00001003471

• IfGH-10772

  Clinical and genetic information of an individual with RVOT-VT and a KCNK2 (TREK1) gene mutation obtained after whole exome sequencing.

  Dataset EGAD00001003328

• Reference epigenome CKD23_C_Mesan_WGBS data generated from KEP study

  A CKD23_C_Mesan_WGBS paired end data for Mesangial cells(kidney)

  Dataset EGAD00001003468

• Promoter capture HiC on KMS11 (multiple myeloma)

  Promoter capture HiC on KMS11 (multiple myeloma)

  Dataset EGAD00001003597

• HipSci - Hereditary Spastic Paraplegia - Exome Sequencing - July 2017

  HipSci - Hereditary Spastic Paraplegia - Exome Sequencing - July 2017

  Dataset EGAD00001003522

• Patient 16CH

  One file of patient 16 with WGS done on Illumina HiSeq X-Ten. For research purpose and authorised user only.

  Dataset EGAD00001003440

• Copy number analysis of Diamond-Blackfan Anemia (DBA) using SNP array

  Diamond–Blackfan anemia (DBA), is a rare congenital anemia that usually presents in infancy. About fifty percent of DBA patients possess mutations in ribosomal protains (RPs). In this study, we performed genomic copy number analysis using SNP arrays for 27 Japanese DBA patients to detect genomic copy number lesions of the RP genes' loci.

  Study EGAS00000000105

• Evaluating potential drug candidates for the treament of Henamgiopericytoma on patient derived cell line models

  Solitary fibrous tumor/Hemangiopericytoma (SFT/HPC) is a rare subtype of soft tissue sarcoma associated with NAB2-STAT6 gene fusions. This study established and characterized a novel SFT/HPC patient-derived cell line called SFT-S1. Potential drug candidates that could be repurposed for the treatment of SFT/HPC were screened.

  Study EGAS50000000027

• NHLBI TOPMed: The Vanderbilt Atrial Fibrillation Registry (VU_AF)

  The Vanderbilt Atrial Fibrillation (AF) Registry was founded in 2001. Patients with AF and family members are prospectively enrolled. At enrollment a detailed past medical history is obtained along with an AF symptom severity assessment. Blood samples are obtained for DNA extraction. Patients are followed longitudinally along with serial collection of AF symptom severity assessments.

  Study phs001032

• Genetic Susceptibility and Biomarkers of Platinum-Related Toxicities

  The Platinum Study is an R01-funded, multicenter study of testicular cancer survivors that characterizes both long-term cisplatin-induced peripheral neuropathy (CisIPN) and cisplatin-associated ototoxicity, i.e., permanent, bilateral hearing loss. We collected data abstracted from medical records (e.g., cumulative cisplatin dose), conducted audiometric examinations, and administered self-report questionnaires, which included CisIPN symptoms.

  Study phs001621

• Washington University Coronary Artery Disease Study

  The genetic basis of coronary artery disease in individuals of non-European ancestry is largely unknown. The Washington University Coronary Artery Disease Study (WUCADS) recruited participants of non-European ancestry with and without coronary artery disease to address this question. Whole genome sequencing in WUCADS was performed at the McDonnell Genome Institute at Washington University.

  Study phs001227

• Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing

  Genetic risk factors for ulcerative colitis are not well understood. We performed a family-based whole exome sequencing analysis to identify potential causal mutations. In the proband, we found a heterozygous de novo mutation in the gene HSPA1L. Our results indicate that the de novo mutation in HSPA1L is associated with ulcerative colitis.

  Study phs001251

• Determinants of Asthma Following RSV Bronchiolitis in Early Life

  The goal of the RSV Bronchiolitis in Early Life (RBEL) study is to determine how specific genetic, biologic, and immunologic characteristics interact to predispose individuals to develop asthma. Participants were carefully recruited by selecting a prospective cohort of 206 infants with severe respiratory syncytial virus (RSV) bronchiolitis who were at substantial risk of developing asthma.

  Study phs001009