12 results on '"Renieri, Alessandra"'
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2. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
3. An atypical case of spastic paraplegia type 11 mimicking a GM2 gangliosidoses
4. Geographical distribution of cystic fibrosis carriers as population genetic determinant of COVID-19 spread and fatality in 37 countries.
5. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
6. Dropped-head in recessive oculopharyngeal muscular dystrophy
7. Antiepileptic drugs in Rett Syndrome.
8. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
9. Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.
10. Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder.
11. CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
12. MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.
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