29 results on '"van Bon, Bregje W.M."'
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2. Genome sequencing identifies major causes of severe intellectual disability
3. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
4. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
5. Clinical Significance of De Novo and Inherited Copy-Number Variation
6. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
7. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
8. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
9. Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and Seizures
10. Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review
11. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
12. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
13. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
14. Quantification of Phenotype Information Aids the Identification of Novel Disease Genes
15. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
16. IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
17. Mutations in TPM2 and congenital fibre type disproportion
18. A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA
19. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
20. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
21. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
22. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
23. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
24. Mutations in MED12 Cause X-Linked Ohdo Syndrome
25. Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
26. A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation
27. Cantú Syndrome Is Caused by Mutations in ABCC9
28. Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
29. Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review
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