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8 results on '"Harr, Margaret H."'

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1. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

2. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

3. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

4. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

5. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

6. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

7. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

8. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

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