Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

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2017 nî lūn-bûn

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2017年の論文

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Atypical autism in a boy with ...... ications of increasing dosage.

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Atypical autism in a boy with ...... ications of increasing dosage.

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Atypical autism in a boy with ...... ications of increasing dosage.

@en

Atypical autism in a boy with ...... ications of increasing dosage.

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Atypical autism in a boy with ...... ications of increasing dosage.

@en

Atypical autism in a boy with ...... ications of increasing dosage.

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P1476

Atypical autism in a boy with ...... ications of increasing dosage.

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P2093

Beth McConnell

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Bonnie MacKinnon Modi

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Breanne Dale

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D James Stavropoulos

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Irene E Drmic

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Jhoan Falcon

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Melissa T Carter

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Ny Hoang

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Pooja Swaroop

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Sanne Jilderda

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P2860

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

Genomic disorders on 22q11

A common molecular basis for rearrangement disorders on chromosome 22q11

A copy number variation map of the human genome

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Adult neuropsychiatric expression and familial segregation of 2q13 duplications

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.

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s41525-017-0031-6

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scholarly article

case report

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10.1038/S41525-017-0031-6

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P478

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Bhooma Thiruvahindrapuram

Stephen W. Scherer

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2017-09-28T00:00:00Z

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P698

29263838

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P921

autism

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5677976

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