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List of works by Vittoria Disciglio

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma

scientific article

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

scientific article published in April 2018

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA ⬇️

scientific article published on January 26, 2012

Identification of a gene expression driven progression pathway in myxoid liposarcoma

scientific article

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

scientific article published on 07 June 2012

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

scientific article published on 07 June 2016

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

scientific article

iPS cells to model CDKL5-related disorders.

scientific article published on 13 July 2011

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

scientific article published on 04 August 2011

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