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15 publications found
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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)
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
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