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422 results on '"Williams, Carol"'

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1. TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

4. Reply to: Australian fairy circles and termite linyji are not caused by the same mechanism

5. De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly

8. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

10. Human genetics and molecular genomics of Chiari malformation type 1

11. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

13. List of Contributors

15. Synthesis, Enzymatic Peptide Incorporation, and Applications of Diazirine-Containing Isoprenoid Diphosphate Analogues

26. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

27. GTPase splice variants RAC1 and RAC1B display isoform-specific differences in localization, prenylation, and interaction with the chaperone protein SmgGDS

33. 169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation

35. Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

36. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

37. Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

38. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

39. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus

42. Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

43. The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing

49. A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

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