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'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability.
Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.
Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data.