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Natural 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
Download from www.nature.comDe novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
UploadDefining the phenotypical spectrum associated with variants in TUBB2A
UploadExpanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
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