about
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsInterplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Can whole-exome sequencing data be used for linkage analysis?Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyLMNA mutation in progeroid syndrome in association with strokes.Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.A novel mutation in the gene expands the phenotype of Alexander diseaseComplete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaA deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesDe novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Edgard Verdura
@ast
Edgard Verdura
@en
Edgard Verdura
@es
Edgard Verdura
@nl
Edgard Verdura
@sl
type
label
Edgard Verdura
@ast
Edgard Verdura
@en
Edgard Verdura
@es
Edgard Verdura
@nl
Edgard Verdura
@sl
prefLabel
Edgard Verdura
@ast
Edgard Verdura
@en
Edgard Verdura
@es
Edgard Verdura
@nl
Edgard Verdura
@sl
P106
P21
P31
P496
0000-0003-3856-2060
P569
2000-01-01T00:00:00Z