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Showing 157 - 169 of 296

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The Implicitome: A Resource for Rationalizing Gene-Disease Associations

Kristina M. Hettne, Mark Thompson,  [ ... ], Erik A. Schultes

Validating the Rett Syndrome Gross Motor Scale

Jenny Downs, Michelle Stahlhut,  [ ... ], Helen Leonard

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Zhi Yon Charles Toh, May Thandar Aung-Htut,  [ ... ], Steve D. Wilton

Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy

Mauhamad Baarine, Mushfiquddin Khan, Avtar Singh, Inderjit Singh

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

Andrea Barp, Luca Bello,  [ ... ], Elena Pegoraro

Persons with Haemophilia in Sweden- Experiences and Strategies in Everyday Life. A Single Centre Study

Elisabeth Brodin, Katharina S. Sunnerhagen, Fariba Baghaei, Marie Törnbom

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