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You searched for: Author/Creator van der Spek, Peter J

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1. A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. (3rd April 2019)

2. Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death. (January 2018)

3. Circulating angiogenic cells in glioblastoma: toward defining crucial functional differences in CAC-induced neoplastic versus reactive neovascularization. Issue 1 (1st April 2020)

4. Contrasting expression pattern of RNA-sensing receptors TLR7, RIG-I and MDA5 in interferon-positive and interferon-negative patients with primary Sjögren's syndrome. Issue 4 (26th September 2016)

5. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

6. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Issue 10 (22nd July 2022)

7. Genome-wide methylation analysis identifies novel CpG loci for perimembranous ventricular septal defects in human. (March 2017)

8. Genome-wide methylation analysis identifies novel CpG loci for perimembranous ventricular septal defects in human. (March 2017)

9. Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation: A Genomic Analysis. (June 2017)

10. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Issue 18 (28th April 2021)