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LUPSKI, JAMES
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CHAO, HSIAO-TUAN
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A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.
Academic Article
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Advances, challenges, and promises in pediatric neuroimaging of neurodevelopmental disorders.
Academic Article
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Altered Gating of Two CaV2.1 Variants Linked to Neurodevelopmental Disorders With Epilepsy and Migraine.
Academic Article
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An assessment of sex bias in neurodevelopmental disorders.
Academic Article
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Association Between Parenting Stress and Functional Impairment Among Children Diagnosed with Neurodevelopmental Disorders.
Academic Article
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Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Academic Article
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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Academic Article
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Academic Article
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Academic Article
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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Academic Article
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De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Academic Article
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Academic Article
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Academic Article
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