Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

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article

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im November 2014 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2014

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name

Phenotype-genotype correlation ...... n and review of the literature

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Phenotype-genotype correlation ...... n and review of the literature

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type

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label

Phenotype-genotype correlation ...... n and review of the literature

@en

Phenotype-genotype correlation ...... n and review of the literature

@nl

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Phenotype-genotype correlation ...... n and review of the literature

@en

Phenotype-genotype correlation ...... n and review of the literature

@nl

P1476

Phenotype-genotype correlation ...... n and review of the literature

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P2093

Agnès Roubertie

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Albert David

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Alice Goldenberg

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Anne-Gaëlle Le Moing

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Boris Keren

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Bruno Delobel

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Béatrice Bourgois

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Bénédicte Duban-Bedu

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Catherine Turleau

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Cédric Le Caignec

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P2860

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

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111-122

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scholarly article

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10.1002/AJMG.A.36807

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English

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167A

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P577

2014-11-25T00:00:00Z

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25425167

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