7 results on '"Vetrini, Francesco"'
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2. Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
3. Genotype‐phenotype study and expansion of ARL6IP1 ‐related complicated hereditary spastic paraplegia
4. EVEN‐PLUS syndrome: A case report with novel variants inHSPA9and evidence ofHSPA9gene dysfunction
5. An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
6. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability
7. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
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