1. 766 Rapid Trio-Exome sequencing for children on the paediatric critical care unit-the gift that keeps on giving. (17th August 2022) Authors: Johnson, Suzannah; Alukrar, Shrirang; Bird, David; Eason, Jaqueline; Butland, Laura Journal: Archives of disease in childhood Issue: Volume 107(2022)Supplement 2 Page Start: A362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MO030: Familial clustering of a rare UMOD variant in undiagnosed hereditary nephropathy suggests the presence of a common ancestral founder mutation. (3rd May 2022) Authors: Kai Xin Chung, Noelle; Valluru, Manoj; Butland, Laura; Cook, Jackie; Dixit, Abhijit; Ong, Albert Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗