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The New England Journal of Medicine|May 8, 2009
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsDetlef Bockenhauer, Sally Feather, Horia C Stanescu, et al.The New England Journal of Medicine|February 18, 2011
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathyHoria C Stanescu, Mauricio Arcos-Burgos, Alan Medlar, et al.Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.Molecular Cancer|June 10, 2022
Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cellsMareike Berlak, Elizabeth Tucker, Mathurin Dorel, et al.Pageof 7