A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

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A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

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name

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@en

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@nl

type

Item

label

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@en

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@nl

prefLabel

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@en

A Rare Inherited 15q11.2-q13.1 ...... , Renal Carcinoma, and Autism.

@nl

P1476

A Rare Inherited 15q11.2-q13.1 ...... m, Renal Carcinoma, and Autism

@en

P2093

Brian Potter

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Christopher Ledbetter

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Eniko K Pivnick

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Kathryn McVicar

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Leticia Miravalle

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Nora Urraca

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Rachel Hundley

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Reed Chamberlain

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Ronald L Thibert

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Stormy Chamberlain

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P2860

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin.

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study.

P304

205

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scholarly article

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10.3389/FGENE.2016.00205

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P478

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P50

Carissa L Sirois

Lawrence T Reiter

P577

2016-11-25T00:00:00Z

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P698

27933089

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P921

autism

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5122884

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