Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

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Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

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http://www.wikidata.org/entity/Q52776190

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2017 nî lūn-bûn

@nan

2017年の論文

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2017年学术文章

@wuu

2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

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name

Marked yield of re-evaluating ...... ith intellectual disabilities.

@en

Marked yield of re-evaluating ...... ith intellectual disabilities.

@nl

type

Item

label

Marked yield of re-evaluating ...... ith intellectual disabilities.

@en

Marked yield of re-evaluating ...... ith intellectual disabilities.

@nl

prefLabel

Marked yield of re-evaluating ...... ith intellectual disabilities.

@en

Marked yield of re-evaluating ...... ith intellectual disabilities.

@nl

P1476

Marked yield of re-evaluating ...... with intellectual disabilities

@en

P2093

Hui Yan

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Hui Yie

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Huili Liu

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Lixiao Shen

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Wei Wei

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Wenjuan Qiu

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Xiaoqing Liu

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Xing Ji

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Yan Xu

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Yanjie Fan

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P2860

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

The epidemiology of mental retardation: challenges and opportunities in the new millennium.

Next-generation sequencing demands next-generation phenotyping.

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

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107-115

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scholarly article

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10.1002/AJMG.A.38542

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English

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P478

176

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P50

Yu Sun

Bing Xiao

P577

2017-11-21T00:00:00Z

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P698

29159939

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