Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T
Article in Stem Cell Research (February 2024)
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Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function
Article in eNeuro (December 2023)
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
Article in Journal of Medical Genetics (November 2023)