The Coffin-Lowry syndrome. Experience from four centres.
about
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutationsIntrafamilial variation in Cohen syndrome.The Coffin-Lowry syndrome."Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndromeCoffin-Lowry syndrome: clinical and molecular features.Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndromeThe natural history of spinal deformity in patients with Coffin-Lowry syndrome.
P2860
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P2860
The Coffin-Lowry syndrome. Experience from four centres.
description
1982 nî lūn-bûn
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1982年の論文
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1982年学术文章
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name
The Coffin-Lowry syndrome. Experience from four centres.
@en
The Coffin-Lowry syndrome. Experience from four centres.
@nl
type
label
The Coffin-Lowry syndrome. Experience from four centres.
@en
The Coffin-Lowry syndrome. Experience from four centres.
@nl
prefLabel
The Coffin-Lowry syndrome. Experience from four centres.
@en
The Coffin-Lowry syndrome. Experience from four centres.
@nl
P2093
P1433
P1476
The Coffin-Lowry syndrome. Experience from four centres
@en
P2093
A G Hunter
M W Partington
P304
P356
10.1111/J.1399-0004.1982.TB01379.X
P577
1982-05-01T00:00:00Z