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Your search keyword '"Lot Snijders Blok"' showing total 15 results

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15 results on '"Lot Snijders Blok"'

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

2. <scp>POU3F3</scp> ‐related disorder: Defining the phenotype and expanding the molecular spectrum

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

4. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

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

6. Speech‐language profiles in the context of cognitive and adaptive functioning in <scp>SATB2</scp> ‐associated syndrome

7. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

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

9. Mutation update for the SATB2 gene

10. Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

11. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

12. NBEA : developmental disease gene with early generalized epilepsy phenotypes

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

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

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

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