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Journal of the American Society of Nephrology : JASN|December 16, 2016
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal DiseaseRachel C Challis, Troels Ring, Yaobo Xu, et al.AIDS Research and Human Retroviruses|May 8, 2018
Shifting the HIV Paradigm from Care to Cure: Proceedings from the Caribbean Expert Summit in Barbados, August 2017R Clive Landis, E Akinola Abayomi, Brendan C Bain, et al.American Journal of Medical Genetics. Part A|December 11, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorderRuth Richardson, Diana Baralle, Christopher Bennett, et al.Elife|May 5, 2021
Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathwayTra Thi Huong Dinh, Hiroyoshi Iseki, Seiya Mizuno, et al.Journal of Immunology (Baltimore, Md. : 1950)|March 4, 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 GlomerulopathyAmy J Osborne, Matteo Breno, Nicolo Ghiringhelli Borsa, et al.Clinical Journal of the American Society of Nephrology : CJASN|September 23, 2021
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and OutcomesEdwin K S Wong, Kevin J Marchbank, Hannah Lomax-Browne, et al.Kidney International|May 11, 2020
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathyVicky Brocklebank, Gurinder Kumar, Alexander J Howie, et al.Science Translational Medicine|April 1, 2016
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humansSandra D Castillo, Elena Tzouanacou, May Zaw-Thin, et al.The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.Pageof 13