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Cold Spring Harbor Molecular Case Studies|October 13, 2019
Enrichment of heterozygous germline <i>RECQL4</i> loss-of-function variants in pediatric osteosarcomaJamie L Maciaszek, Ninad Oak, Wenan Chen, et al.Leukemia|October 7, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessmentRebecca K Voss, Victor B Pastor Loyola, Maria F Cardenas, et al.Blood|August 17, 2022
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphomaJamie E Flerlage, Jason R Myers, Jamie L Maciaszek, et al.Genome Medicine|October 23, 2025
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndromeCristina Fortuno, Megan N Frone, Jessica Mester, et al.Blood Cancer Discovery|February 17, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid LeukemiaMasayuki Umeda, Jing Ma, Benjamin J Huang, et al.Cancer Discovery|July 24, 2021
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA SequencingScott Newman, Joy Nakitandwe, Chimene A Kesserwan, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|May 4, 2021
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing SurveillanceCarol Durno, Ayse Bahar Ercan, Vanessa Bianchi, et al.Pageof 3