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Your search keyword '"van Bon, Bregje W.M."' showing total 16 results

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16 results on '"van Bon, Bregje W.M."'

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1. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

2. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

3. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

4. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

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

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

7. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

8. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

9. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

10. Mutations in MED12 Cause X-Linked Ohdo Syndrome

12. Mutations in TPM2 and congenital fibre type disproportion

13. Cantú Syndrome Is Caused by Mutations in ABCC9

15. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

16. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

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