Diana Baralle

1. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
   2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
   Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Congenital heart defects research
2. Not all SCN1A epileptic encephalopathies are Dravet syndrome
   2017/08/09 by Lynette G. Sadleir, Emily Mountier, Emily I. Mountier +354 · 28 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
3. Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
   2023/12/16 by Andrew G. L. Douglas, Andrew G L Douglas, Diana Baralle · 14 citations
   Medicine · Neuroscience · #Amyotrophic Lateral Sclerosis Research #Neurogenetic and Muscular Disorders Research #Neurological diseases and metabolism