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The CRISPR Journal|July 26, 2022
Gene Editing and Rett Syndrome: Does It Make the Cut?Bronte Coorey, Florencia Haase, Carolyn Ellaway, et al.
Brain & Development|May 29, 2007
Sleep problems in Rett syndromeDeidra Young, Lakshmi Nagarajan, Nick de Klerk, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2006
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome DatabaseLaila Robertson, Sonĵa E Hall, Peter Jacoby, et al.
Developmental Neurorehabilitation|April 15, 2014
Family satisfaction following spinal fusion in Rett syndromeJenny Downs, Ian Torode, Carolyn Ellaway, et al.
Internal Medicine Journal|January 12, 2024
Fabry-specific treatment in Australia: time to align eligibility criteria with international best practicesKathleen Nicholls, Charles Denaro, Michel Tchan, et al.
JIMD Reports|December 26, 2013
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) ResponsivenessGladys Ho, Ian Alexander, Kaustuv Bhattacharya, et al.
Medicine|December 20, 2014
Experience of gastrostomy using a quality care framework: the example of rett syndromeJenny Downs, Kingsley Wong, Madhur Ravikumara, et al.
JIMD Reports|April 29, 2026
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C DiseaseArthavan Selvanathan, Ashley Hertzog, Jacqui Russell, et al.
Molecular Genetics and Metabolism|August 11, 2005
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experienceJohn J Mitchell, Bridget Wilcken, Ian Alexander, et al.
Clinical Case Reports|February 23, 2023
Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delaysSimone Coupe, Ashley Hertzog, Carolyn Foran, et al.
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