8 results on '"Cubellis, MARIA VITTORIA"'
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2. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
3. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
4. Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach
5. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
6. D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR
7. Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
8. A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype
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