9 results on '"Prieto-Morin, Carol"'
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2. Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
3. PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy
4. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
5. CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis
6. TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement
7. Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
8. HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease
9. TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement.
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