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Science Advances|July 7, 2023
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosisGerald Coulis, Diego Jaime, Christian Guerrero-Juarez, et al.Human Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.Pageof 12