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List of works by Pietro Schinocca

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

scientific article

Carrier screening for spinal muscular atrophy in Italian population

article

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients ⬇️

scientific article published on April 12, 2013

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

scientific article published on 7 January 2013

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis

scientific article published in November 2001

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

scientific article published in June 2005

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