Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

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Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.

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Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

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http://www.wikidata.org/entity/Q52095104

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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

@wuu

2016年学术文章

@zh

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

@zh-hant

name

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@en

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@nl

type

Item

label

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@en

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@nl

prefLabel

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@en

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@nl

P1476

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

@en

P2093

Anna Rita Ferrari

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

Roberta Milone

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

Rosa Pasquariello

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

Stefania Bargagna

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P2860

A novel protein with RNA-binding motifs interacts with ataxin-2

Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene

Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities.

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

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex.

4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

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2329048X16676153

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scholarly article

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10.1177/2329048X16676153

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2016-01-01T00:00:00Z

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28503620

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5417293

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Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

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P2860

P2860

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932