Clinical and biological progress over 50 years in Rett syndrome von Leonard, Helen, Cobb, Stuart, Downs, Jenny

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Impact of biobanks on research outcomes in rare diseases: a systematic review von Garcia, Monique, Downs, Jenny, Russell, Alyce, Wang, Wei

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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding von Ta, Daniel, Downs, Jenny, Baynam, Gareth, Wilson, Andrew, Richmond, Peter, Leonard, Helen

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Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial von Downs, Jenny, Rodger, Jenny, Li, Chen, Tan, Xuesong, Hu, Nan, Wong, Kingsley, de Klerk, Nicholas, Leonard, Helen

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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome von Downs, Jenny, Wong, Kingsley, Leonard, Helen

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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder von Lim, Zhan, Wong, Kingsley, Downs, Jenny, Bebbington, Keely, Demarest, Scott, Leonard, Helen

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome von Mangatt, Meghana, Wong, Kingsley, Anderson, Barbara, Epstein, Amy, Hodgetts, Stuart, Leonard, Helen, Downs, Jenny

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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome von Leonard, Helen, Gold, Wendy, Samaco, Rodney, Sahin, Mustafa, Benke, Timothy, Downs, Jenny

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Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients von Lim, Zhan, Wong, Kingsley, Olson, Heather E., Bergin, Ann M., Downs, Jenny, Leonard, Helen

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Validating the Rett Syndrome Gross Motor Scale von Downs, Jenny, Stahlhut, Michelle, Wong, Kingsley, Syhler, Birgit, Bisgaard, Anne-Marie, Jacoby, Peter, Leonard, Helen

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Trends in the Diagnosis of Rett Syndrome in Australia von Fehr, Stephanie, Bebbington, Ami, Nassar, Natasha, Downs, Jenny, Ronen, Gabriel M, De Klerk, Nicholas, Leonard, Helen

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Evaluation Tools Developed for Rett Syndrome von Lotan, Meir, Downs, Jenny, Stahlhut, Michelle, Romano, Alberto

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Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability von Downs, Jenny, Keeley, Jessica, Skoss, Rachel, Mills, Jaquie, Nevill, Thom, Schippers, Alice, Lindly, Olivia, Thompson, Sandra

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Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A Protocol von Schofield, Cara, Bigby, Christine, Downs, Jenny, Taylor, Nicholas F., Shields, Nora

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Employing cognitive interviewing to evaluate, improve and validate items for measuring the health-related quality of life of women diagnosed with ovarian cancer von Boban, Sharolin Ann, Bulsara, Caroline, Codde, Jim, Cohen, Paul A, Downs, Jenny

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Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences von Keeley, Jessica, Stroobach, Aysha, Huston, Meg, Wilson, Andrew, Lam, Jenny, Withers, Adelaide, van Veldhuisen, Cornelia, Baynam, Gareth, Downs, Jenny

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Implementing telehealth support to increase physical activity in girls and women with Rett syndrome—ActivRett: protocol for a waitlist randomised controlled trial von Downs, Jenny, Lotan, Meir, Elefant, Cochavit, Leonard, Helen, Wong, Kingsley, Buckley, Nicholas, Stahlhut, Michelle

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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study von Mackay, Jessica, Downs, Jenny, Wong, Kingsley, Heyworth, Jane, Epstein, Amy, Leonard, Helen

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Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP Frameworks von Gomez, Rapson, Liu, Lu, Krueger, Robert, Stavropoulos, Vasileios, Downs, Jenny, Preece, David, Houghton, Stephen, Chen, Wai

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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey von Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Downs, Jenny, Leonard, Helen, Nues, Paige, Sharma, Girish D, Bartolotta, Theresa E, Townend, Gillian S, Curfs, Leopold M G, Mariotti, Orietta, Buda, Claude, O'Leary, Heather M, Oberman, Lindsay M, Vogel-Farley, Vanessa, Barnes, Katherine V, Missling, Christopher U

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