Showing results 1 to 2 of 2
Title | Author(s) | Issue Date | |
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COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders | 2023 | ||
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports | 2018 |