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9 results on '"Mark, Paul R"'

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1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

2. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

3. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

4. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

5. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

6. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

7. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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