Carolyn Ellaway

发表

Guidelines for reporting clinical features in cases with MECP2 mutations

Masaya Segawa, Yushiro Yamashita, Uta Francke, 2001, Brain and Development.

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Janice Fletcher, Pamela Joy, Kevin Carpenter, 2009, Pediatrics.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.

Rett syndrome in Australia: a review of the epidemiology.

Carol Bower, J. Christodoulou, H. Leonard, 2006, The Journal of pediatrics.