An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
about
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesFragile X syndrome. Molecular and clinical insights and treatment issuesDeletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expressionLarge domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replicationPrenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.Size and methylation mosaicism in males with Fragile X syndrome.
P2860
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P2860
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
description
1995 nî lūn-bûn
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1995年の論文
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1995年論文
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1995年論文
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1995年論文
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1995年論文
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1995年論文
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1995年论文
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1995年论文
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1995年论文
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name
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@ast
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@en
type
label
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@ast
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@en
prefLabel
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@ast
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@en
P2093
P2860
P1476
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
@en
P2093
P2860
P304
P407
P577
1995-05-01T00:00:00Z