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Genetic linkage

A pre-post single-arm pilot trial of a digital multicomponent intervention for self-efficacy enhancement among online support groups of primary caregivers of children with neuro-muscular disorders: SEE-NMD protocol

Nashit Irfan Aziz, Wardah Khalid, Sara Khan

A non-allelic homologous recombination-induced inversion in intron 22 of the F8 gene is causative for haemophilia A in a Weimaraner male dog

Sabrina Pach, Joel Fonseca Nogueira, Bertram Brenig

Evaluation of the completeness of a medical record dataset linked to administrative claims through tokenization in patients with Hemophilia B

Anna Stachel Kane, Diana Madalina Stan, Darren Jeng, Yong Chen

Does randomization matter in rare disease clinical trials

Stephanie Wied, Denis Kirilov Razsolkov, Nicole Heussen, Ralf-Dieter Hilgers

Barriers and levers to using an app for motor function assessment by therapists in hospitals: A qualitative study of the MFM-Play app

Dominique Vincent-Genod, Manon Verroul, [ ... ], MFM-Play Study Group

Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis

Fabian A. Chavez-Ecos, Carlos Quispe-Vicuña, [ ... ], Carlos Alva-Diaz

A natural history study of Chinese individuals with Duchenne muscular dystrophy: Results from 2 years of follow-up and beyond

Xihua Li, Xinying Yang, [ ... ], Caiping Jia

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, [ ... ], Tsang-Ming Ko

A shape-based functional index for objective assessment of pediatric motor function

Shashwat Kumar, Arafat Rahman, [ ... ], Laura E. Barnes

Lifetime economic burden of hemophilia using a nationwide real-world healthcare data

Joo-Young Byun, Jae-Hoon Jung, [ ... ], Eui-Kyung Lee

Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account

Philipp Hahn, Werner Lechner, [ ... ], Thomas Lücke

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy

Francesco Muntoni, James Signorovitch, [ ... ], Craig McDonald

The prospective acceptability of preventative IV bisphosphonate therapy prior to fracture: Perspectives of young people with Duchenne muscular dystrophy, parents and health professionals

Danielle C. Mountain, Nicola Crabtree, [ ... ], Lucy Bray

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