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24 results on '"Snijders Blok, Lot"'

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1. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

2. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

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

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

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

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

7. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

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

9. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

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

11. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

12. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

13. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

14. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

16. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

17. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

18. A second cohort of CHD3patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

19. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

20. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

21. Inherited variants in CHD3demonstrate variable expressivity in Snijders Blok-Campeau syndrome

22. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

23. NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

24. DDX3X -Related Neurodevelopmental Disorder

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