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17 publications found
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Convergent blood-brain barrier breakdown in schizophrenia and autism spectrum disorders: a systematic review of preclinical animal models.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Transition From Children’s to Adults’ Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline
Deregulated mRNA and microRNA Expression Patterns in the Prefrontal Cortex of the BTBR Mouse Model of Autism
Rett syndrome in Ireland: a demographic study
Bridging the translational gap: what can synaptopathies tell us about autism?
Editorial: Biology of brain disorders – Cellular substrates for disrupted synaptic function and experience-dependent plasticity
Germline mosaicism in a family with MBD5 haploinsufficiency
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neuronss
Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
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