Associated Papers
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
Identification of rare missense mutations in the glutamate ionotropic receptor AMPA type subunit genes in schizophrenia.
Lin KH et al.
Psychiatric Genetics, 2023
Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
Lintas C et al.
Journal of Clinical Medicine, 2021
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
Alkelai A et al.
Journal of Human Genetics, 2021
Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.
Zhou B et al.
Frontiers in Genetics, 2021
[A novel missense mutation in MIP gene resulted in polymorphic cataract].
Lin H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
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