Pure interstitial dup(6)(q22.31q22.31) - a case report.

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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

P2860

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Pure interstitial dup(6)(q22.31q22.31) - a case report.

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2015 nî lūn-bûn

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Pure interstitial dup

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Pure interstitial dup(6)(q22.31q22.31) - a case report.

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Item

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Pure interstitial dup

@nl

Pure interstitial dup(6)(q22.31q22.31) - a case report.

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Pure interstitial dup

@nl

Pure interstitial dup(6)(q22.31q22.31) - a case report.

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P1476

Pure interstitial dup(6)(q22.31q22.31) - a case report.

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P2093

Frenny Sheth

http://www.w3.org/2001/XMLSchema#string

Jayesh Sheth

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Jean-Louis Blouin

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Joris Andrieux

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Sunil Trivedi

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P2860

Initial sequencing and analysis of the human genome

Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Detection of large-scale variation in the human genome

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Segmental duplications: organization and impact within the current human genome project assembly.

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s13052-015-0113-y

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scholarly article

case report

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10.1186/S13052-015-0113-Y

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2015-01-31T00:00:00Z

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Pure interstitial dup(6)(q22.31q22.31) - a case report.

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P2860

P2860

Pure interstitial dup(6)(q22.31q22.31) - a case report.

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name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P5875

P6179

P698

P932