Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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Clinical utility of the X-chromosome array.

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P1476

Clinical utility of the X-chromosome array.

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P2093

Alka Dwivedi

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Angie W Lichty

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Barbara C Gordon

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Barbara R Dupont

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David B Everman

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Frank O Bartel

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Joseph S Geer

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L Kate Clarkson

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M Allison Bellomo

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Michael J Lyons

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P2860

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

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

Isolated and contiguous glycerol kinase gene disorders: a review.

P304

120-130

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P31

scholarly article

P356

10.1002/AJMG.A.35698

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P407

English

P433

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P478

161A

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P50

Yuri A Zarate

P577

2012-12-03T00:00:00Z

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P698

23208842

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