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Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis
UploadSolving patients with rare diseases through programmatic reanalysis of genome-phenome data
UploadClinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
Download from doi.orgDLG4-related synaptopathy: a new rare brain disorder
UploadNatural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
UploadBi-allelic truncating mutations in VWA1 cause neuromyopathy
Download from academic.oup.comSolve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
UploadDe novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
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