Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
about
Platelet studies in autism spectrum disorder patients and first-degree relativesThe contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders.RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome.Regulatory variants of FOXG1 in the context of its topological domain organisation.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.
P2860
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Platelet defects in congenital ...... to a position effect at 14q12.
@en
Platelet defects in congenital ...... to a position effect at 14q12.
@nl
type
label
Platelet defects in congenital ...... to a position effect at 14q12.
@en
Platelet defects in congenital ...... to a position effect at 14q12.
@nl
prefLabel
Platelet defects in congenital ...... to a position effect at 14q12.
@en
Platelet defects in congenital ...... to a position effect at 14q12.
@nl
P2093
P2860
P356
P1476
Platelet defects in congenital ...... to a position effect at 14q12.
@en
P2093
Andreas Tzschach
Anita Rauch
Chris Van Geet
Christophe Goubau
Dagmar Wieczorek
Gunnar Buyse
Koen Devriendt
Marjolein H Willemsen
Nathalie Van der Aa
P2860
P2888
P304
P356
10.1038/EJHG.2013.86
P577
2013-05-01T00:00:00Z