Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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P1476

Genomics in neurodevelopmental disorders: an avenue to personalized medicine

@en

P2093

Dora C Tărlungeanu

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Gaia Novarino

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Creative Commons Attribution

P2860

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

De novo mutations in epileptic encephalopathies

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1).

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.

P2888

s12276-018-0129-7

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100

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P31

scholarly article

review article

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10.1038/S12276-018-0129-7

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P407

English

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P478

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P577

2018-08-07T00:00:00Z

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P698

30089840

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P921

neurodevelopmental disorders

molecular medicine

molecular biology

P932

6082867

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