about
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationAcetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6CEP152 is a genome maintenance protein disrupted in Seckel syndromeMutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHaploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyRPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNALoss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceRange of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Dagmar Wieczorek
@ast
Dagmar Wieczorek
@en
Dagmar Wieczorek
@es
Dagmar Wieczorek
@nl
Dagmar Wieczorek
@sl
type
label
Dagmar Wieczorek
@ast
Dagmar Wieczorek
@en
Dagmar Wieczorek
@es
Dagmar Wieczorek
@nl
Dagmar Wieczorek
@sl
prefLabel
Dagmar Wieczorek
@ast
Dagmar Wieczorek
@en
Dagmar Wieczorek
@es
Dagmar Wieczorek
@nl
Dagmar Wieczorek
@sl