about
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.Killer-specific secretory (Ksp37) gene expression in subjects with Down's syndrome.Methylation analysis of multiple genes in blood DNA of Alzheimer's disease and healthy individuals.Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.NF-kB1 gene expression in Down syndrome patients.Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.Carrier screening for spinal muscular atrophy in Italian populationInterpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease
P50
Q34462834-354CDFE7-B796-4E1C-ABE8-B028A0029F52Q39247139-336C84CE-B8A9-423A-A6B5-4AD972DDBBC2Q39874454-2C48295E-40DA-4B95-92CB-13BD689A063BQ40831175-629D9604-4068-4B82-9FCA-BFF6E8B7CA2DQ43636125-6C4FD3EC-2240-4C21-8B24-1384109E432BQ48484246-E90113B0-ABB4-4CAC-9CAF-91F6664B0532Q50303439-F44CF1F2-D263-4288-86CE-37AA44510DA2Q51005548-170D7CDE-74D5-4E5D-B106-40D6D6A18C45Q51067230-BA6B10A6-B977-4F51-AC5B-7966D813271BQ57573618-05DD942A-AEC3-4CFE-AD74-DED739CCD3F0Q58593524-10125E6E-6F6F-42C2-9FAF-9EA5FF143567
P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-7399-964X
@en
name
ALDA RAGALMUTO
@ast
ALDA RAGALMUTO
@en
ALDA RAGALMUTO
@es
ALDA RAGALMUTO
@nl
type
label
ALDA RAGALMUTO
@ast
ALDA RAGALMUTO
@en
ALDA RAGALMUTO
@es
ALDA RAGALMUTO
@nl
prefLabel
ALDA RAGALMUTO
@ast
ALDA RAGALMUTO
@en
ALDA RAGALMUTO
@es
ALDA RAGALMUTO
@nl
P106
P1153
6507757959
P31
P496
0000-0002-7399-964X