2 results match your criteria: "Children's Neurosciences Evelina London Children's Hospital[Affiliation]"
Editorial: Neuronal Plasticity and Neuromodulation in Development and Developmental Disorders.
Front Neurol
May 2022
Children's Neurosciences Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
CLN8 disease caused by large genomic deletions.
Mol Genet Genomic Med
January 2017
MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK.
Background: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.
Method: The DNA of patients was analyzed in a diagnostic setting.
Results: We present three unrelated patients each carrying deletions that encompass the 37 kb gene and discuss their phenotype.