Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
about
Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.cerebroViz: an R package for anatomical visualization of spatiotemporal brain data.Bio-collections in autism research.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genetic Approaches to Understanding Psychiatric Disease.De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.Examining non-LTR retrotransposons in the context of the evolving primate brain.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Genetic analysis of very obese children with autism spectrum disorder.Drosophila Studies on Autism Spectrum Disorders.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Phenotypic spectrum associated with de novo mutations in QRICH1 gene.Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
P2860
Q30853711-D72237E7-1119-4983-A869-DF13B2CF209DQ31151058-7EE1E4D8-6481-4DBC-9A7B-27F5D70D05B4Q33892169-F1B3E11B-A82C-4DDE-822C-2A19BA6AA76CQ37383603-1C1DE346-E94A-4A15-BCE5-873D14E1539BQ38728415-659BB14F-72D8-409B-B4A7-56F4FF8D21B8Q39830984-827628C3-C9D9-4244-9188-13BDCE45B38AQ41365396-619834C4-ED03-47A5-B0B2-1E683247DE00Q42175057-BA0EAFDD-AD79-45A3-951E-BB706FF4CA2CQ47125495-6D5547A2-DF76-4473-B57F-62685B0C733AQ47560546-95CC117E-54F6-4D8A-B8C9-9A65A932A618Q47970219-280494F7-5B79-4803-9472-E07A81BBFA66Q48124449-26EF2CBA-5D24-4B7D-9E4E-7065960F5AC6Q48152185-36B67012-B32B-4F1D-ABAD-922E20D4B325Q52657549-84CB5457-DB3E-4431-8A85-F74607C42EEFQ55518665-4F168DCE-5534-46DF-AC42-47263E7BCEE0
P2860
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
description
2016 nî lūn-bûn
@nan
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
2016年论文
@zh
2016年论文
@zh-cn
name
Disruption of POGZ Is Associat ...... and Autism Spectrum Disorders.
@en
type
label
Disruption of POGZ Is Associat ...... and Autism Spectrum Disorders.
@en
prefLabel
Disruption of POGZ Is Associat ...... and Autism Spectrum Disorders.
@en
P2093
P2860
P50
P1476
Disruption of POGZ Is Associat ...... and Autism Spectrum Disorders.
@en
P2093
Alexander Hoischen
Aurelia Jacquette
Boris Keren
Bradley P Coe
Bruno Delobel
Bénédicte Gerard
Carlo M Marcelis
Connie Stumpel
Daphne Lehalle
David Genevieve
P2860
P304
P356
10.1016/J.AJHG.2016.02.004
P407
P50
P577
2016-03-01T00:00:00Z