Exome sequencing and the genetics of intellectual disability.
about
LINS, a modulator of the WNT signaling pathway, is involved in human cognitionThe Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation MedicineAdvances in understanding - genetic basis of intellectual disabilityUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsWEP: a high-performance analysis pipeline for whole-exome data.Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataPhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathyThe future of genomics for developmentalists.Future possibilities in migraine genetics.Making headway with genetic diagnostics of intellectual disabilities.Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.Anxiety, depression, and quality of life in mothers of newborns with microcephaly and presumed congenital Zika virus infection: a follow-up study during the first year after birth.Spectrum of neurodevelopmental disabilities: a cohort study in hungary.Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.Childhood disabilities: reappraisal in the high-tech era.FOXP1mutations cause intellectual disability and a recognizable phenotypeUtility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative casesGenomics in neurodevelopmental disorders: an avenue to personalized medicine
P2860
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P2860
Exome sequencing and the genetics of intellectual disability.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Exome sequencing and the genetics of intellectual disability.
@ast
Exome sequencing and the genetics of intellectual disability.
@en
type
label
Exome sequencing and the genetics of intellectual disability.
@ast
Exome sequencing and the genetics of intellectual disability.
@en
prefLabel
Exome sequencing and the genetics of intellectual disability.
@ast
Exome sequencing and the genetics of intellectual disability.
@en
P2860
P1433
P1476
Exome sequencing and the genetics of intellectual disability
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2011.01720.X
P50
P577
2011-06-15T00:00:00Z