Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
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Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical ApplicationsA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic VariationReplicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism.Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK32014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The LifespanNovel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics.Exploiting the potential of next-generation sequencing in genomic medicine.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Modelling Autistic Neurons with Induced Pluripotent Stem Cells.Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development.Early postnatal exposure to airborne fine particulate matter induces autism-like phenotypes in male rats.A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.
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P2860
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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Whole genome sequencing reveal ...... lial autism spectrum disorder.
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Whole genome sequencing reveal ...... lial autism spectrum disorder.
@en
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Whole genome sequencing reveal ...... lial autism spectrum disorder.
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P2093
P2860
P50
P1433
P1476
Whole genome sequencing reveal ...... ilial autism spectrum disorder
@en
P2093
Adali Pecci
Bianca Brun
Dolores González-Morón
Jonathan J Zaiat
Marcelo A Kauffman
Marta Córdoba
Martin Vazquez
María Florencia Ogara
Mónica Fabbro
Nancy M Medina
P2860
P304
P356
10.1371/JOURNAL.PONE.0116358
P407
P577
2015-02-03T00:00:00Z