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2. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

4. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

5. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

7. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

9. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

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