Search

Your search keyword '"Jolly, Lachlan A"' showing total 16 results

Search Constraints

Start Over You searched for: Author "Jolly, Lachlan A" Remove constraint Author: "Jolly, Lachlan A" Publisher elsevier bv Remove constraint Publisher: elsevier bv
16 results on '"Jolly, Lachlan A"'

Search Results

3. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

6. Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development

7. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

8. Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

10. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

11. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

13. A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

14. A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

15. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

16. A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Catalog

Books, media, physical & digital resources