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Your search keyword '"Snijders Blok, Lot"' showing total 6 results

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6 results on '"Snijders Blok, Lot"'

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1. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

2. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

3. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

4. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

5. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

6. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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