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Blood|November 18, 2020
Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemiaJenny Klintman, Niamh Appleby, Basile Stamatopoulos, et al.Cold Spring Harbor Molecular Case Studies|April 4, 2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencingAnna Schuh, Helene Dreau, Samantha J L Knight, et al.British Journal of Haematology|July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasNoémi B A Roy, Edward A Wilson, Shirley Henderson, et al.Nature Communications|March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningRyan M Baxley, Wendy Leung, Megan M Schmit, et al.Blood|December 17, 2013
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damageRuth Clifford, Tania Louis, Pauline Robbe, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes ProjectPauline Robbe, Niko Popitsch, Samantha J L Knight, et al.Nature Medicine|March 20, 2026
Liquid biopsy for the diagnosis of EBV-positive Burkitt's lymphoma in endemic areasClara Chamba, Heavenlight Christopher, Emmanuel Josephat, et al.Blood|June 13, 2018
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.Pageof 2