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List of works by Alda Ragalmuto

Carrier screening for spinal muscular atrophy in Italian population

article

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients

scientific article published on 12 April 2013

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

scientific article published on 01 January 2019

Killer-specific secretory (Ksp37) gene expression in subjects with Down's syndrome

scientific article published on 31 March 2016

Methylation analysis of multiple genes in blood DNA of Alzheimer's disease and healthy individuals

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

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

scientific article published on 9 November 2016

NF-kB1 gene expression in Down syndrome patients

scientific article published on 16 October 2014

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

scientific article

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

scientific article published in September 2006

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