Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

about

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

P2860

Q37453434-A56C7E0E-465F-414B-A88D-B65D1BC7E378 Q52648403-115A7D45-4617-4F18-9217-28DB7CB3E398

P2860

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

Item

http://www.wikidata.org/entity/Q36327651

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

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

@zh

2017年學術文章

@zh-hant

name

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@ast

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@en

type

Item

label

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@ast

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@en

prefLabel

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@ast

Analytical and Clinical Validi ...... Neurodevelopmental Conditions.

@en

P1476

Analytical and Clinical Validi ...... Neurodevelopmental Conditions

@en

P2093

Andy Peiffer

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

Brynn Levy

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

Charles Hensel

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

Edward Wassman

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

Karen S Ho

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

Kenneth Ward

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

Lesa Nelson

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

Megan Martin

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

Moises Serrano

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

Patricia Rushton

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

P2860

Functional impact of global rare copy number variation in autism spectrum disorders

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Strong association of de novo copy number mutations with autism

Structural variation of chromosomes in autism spectrum disorder

Comprehensive evaluation of the child with intellectual disability or global developmental delays

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Association between microdeletion and microduplication at 16p11.2 and autism

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

P31

scholarly article

P356

10.1371/CURRENTS.EOGT.7D92CE775800EF3FBC72E3840FB1BC22

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

P478

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

P50

C G Lambert

P577

2017-02-27T00:00:00Z

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

P698

28357155

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

P932

5346028

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

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

about

P2860

P2860

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P31

P356

P478

P50

P577

P698

P932