Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
about
Genome-wide association studies identified multiple genetic loci for body size at four growth stages in Chinese Holstein cattleStructural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Efficient and rapid generation of large genomic variants in rats and mice using CRISMEREDyrk1 inhibition improves Alzheimer's disease-like pathology.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome
P2860
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P2860
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
description
2016 nî lūn-bûn
@nan
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Case report of novel DYRK1A mu ...... and a review of the literature
@ast
Case report of novel DYRK1A mu ...... and a review of the literature
@en
Case report of novel DYRK1A mu ...... and a review of the literature
@nl
type
label
Case report of novel DYRK1A mu ...... and a review of the literature
@ast
Case report of novel DYRK1A mu ...... and a review of the literature
@en
Case report of novel DYRK1A mu ...... and a review of the literature
@nl
prefLabel
Case report of novel DYRK1A mu ...... and a review of the literature
@ast
Case report of novel DYRK1A mu ...... and a review of the literature
@en
Case report of novel DYRK1A mu ...... and a review of the literature
@nl
P2093
P2860
P921
P1433
P1476
Case report of novel DYRK1A mu ...... and a review of the literature
@en
P2093
Daniela Pohl
David A Dyment
Erick Sell
Hussein Daoud
Justin D Wagner
Stephanie M Luco
P2860
P2888
P356
10.1186/S12881-016-0276-4
P407
P5008
P577
2016-02-27T00:00:00Z
P5875
P6179
1003030747