16 results on '"Russo, Silvia"'
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2. Congenital hypothyroidism after newborn screening program reorganization in the Apulia region
3. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
4. Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
5. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
6. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
7. A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
8. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
9. BHV-1: New Molecular Approaches to Control a Common and Widespread Infection
10. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
11. Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
12. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
13. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
14. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
15. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
16. Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
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