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Kidney International Reports|July 31, 2024
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases CohortKatie Wong, David Pitcher, Fiona Braddon, et al.Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.Nature Genetics|July 31, 2007
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophyAnna Richards, Arn M J M van den Maagdenberg, Joanna C Jen, et al.Nature Genetics|November 22, 2016
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjectsChristian R Marshall, Daniel P Howrigan, Daniele Merico, et al.Pageof 20