Associated Papers
TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Gómez-Tortosa E et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.
Jaouadi H et al.
Journal of Translational Medicine, 2023
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.
Dobson MG et al.
Kidney International, 2013
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