Publication A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.
Publication Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.
Publication Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Publication Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
Publication Nasal or throat sampling is adequate for the detection of the human respiratory syncytial virus in children with acute respiratory infections.
Publication Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement.
Publication Naïve regulatory T cells in infancy: Associations with perinatal factors and development of food allergy.
Publication The experiences of children with autism spectrum disorder, their caregivers and health care providers during day procedure: A mixed methods study.
