Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

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http://www.wikidata.org/entity/Q37654549
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnosticsEthical issues in neonatal and pediatric clinical trials.Genetically complex epilepsies, copy number variants and syndrome constellations.Rare copy number variants are an important cause of epileptic encephalopathies.A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbiditiesGenetic variations and associated pathophysiology in the management of epilepsy.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.Glutamate receptors and learning and memory.A recessive ataxia diagnosis algorithm for the next generation sequencing era.Neurogenomics - towards a more rigorous science.Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.Duplication 16p11.2 in a child with infantile seizure disorder.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
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Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

Item
http://www.wikidata.org/entity/Q37654549
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@en
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@nl
type
label
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@en
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@nl
prefLabel
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@en
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Genotype to phenotype-discover ...... ers in a "genotype-first" era.
@en
P2093
P2860
P2888
P304
P31
P356
10.1097/GIM.0B013E3181C175D2
P407
P433
P478
P577
P698