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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis ofSCYL1 Journal Articles - Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 Journal Articles
- Characterization of the optic nerve and retinal ganglion cell layer in the dysmyelinated adult Long Evans Shaker rat: Evidence for axonal sprouting Journal Articles
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Journal Articles
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Journal Articles
- Infantile centronuclear myopathy Journal Articles
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal Articles
- Mutant Alleles at the Locus elav in Drosophila melanogaster lead to Nervous System Defects. A Developmental-Genetic Analysis Journal Articles
- Perturbed glial scaffold formation precedes axon tract malformation in Drosophila mutants Journal Articles
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders Journal Articles