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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|September 30, 2024
Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin LymphomaJan-Michel Heger, Laman Mammadova, Julia Mattlener, et al.Genes, Chromosomes & Cancer|November 3, 2019
Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemiaPaurnima Patil, Agata Cieslak, Stephan H Bernhart, et al.Breast Cancer Research : BCR|May 1, 2019
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancerNana Weber-Lassalle, Julika Borde, Konstantin Weber-Lassalle, et al.Annals of Neurology|December 18, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutationElena Gardella, Felicitas Becker, Rikke S Møller, et al.Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2019
The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2020
Correction: The genomic and clinical landscape of fetal akinesiaMatthias Pergande, Susanne Motameny, Özkan Özdemir, et al.Nature Genetics|April 2, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndromeMathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patientsSina Renner, Helke Schüler, Malik Alawi, et al.Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.Pageof 33