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Brain : a Journal of Neurology|October 13, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsJavier A López-Rivera, Costin Leu, Marie Macnee, 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.Plos Genetics|September 25, 2019
Distinct genetic variation and heterogeneity of the Iranian populationZohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian, et al.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.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.Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.Epilepsia|February 13, 2003
Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12Thomas Sander, Christine Windemuth, Herbert Schulz, et al.EMBO Molecular Medicine|December 17, 2015
Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNPJohannes Vogt, Jenq-Wei Yang, Arian Mobascher, 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.Pageof 52