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Bone mineral content and density in Rett syndrome and their contributing factors.Twenty years of surveillance in Rett syndrome: what does this tell us?Recent advances in MeCP2 structure and function.Gross motor profile in rett syndrome as determined by video analysis.Level of purposeful hand function as a marker of clinical severity in Rett syndromeThe relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationKaryopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.Updating the profile of C-terminal MECP2 deletions in Rett syndromeAberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome.
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description
im August 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 November 2005
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2005
@uk
name
p.R270X MECP2 mutation and mortality in Rett syndrome
@en
p.R270X MECP2 mutation and mortality in Rett syndrome
@nl
type
label
p.R270X MECP2 mutation and mortality in Rett syndrome
@en
p.R270X MECP2 mutation and mortality in Rett syndrome
@nl
prefLabel
p.R270X MECP2 mutation and mortality in Rett syndrome
@en
p.R270X MECP2 mutation and mortality in Rett syndrome
@nl
P2093
P2860
P50
P356
P1476
p.R270X MECP2 mutation and mortality in Rett syndrome
@en
P2093
Alison Kerr
Crystal Laurvick
David Ravine
Hayley L Archer
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201479
P577
2005-11-01T00:00:00Z