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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene
UploadSpliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgGenomic profiling informs diagnoses and treatment in vascular anomalies
UploadHuman T follicular helper clones seed the germinal center–resident regulatory pool
UploadSaudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44)
Download from doi.orgLarge trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche
Download from academic.oup.comANKRD11 variants: KBG syndrome and beyond
UploadConstrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Download from rupress.orgMissing publications? Search for publications with a matching author name.