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Sex linkage

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

Physical activity and handgrip strength in patients with mild, moderate and severe haemophilia: Impacts on bone quality and lean mass

Pia Ransmann, Marius Brühl, [ ... ], Andreas Christian Strauss

Longitudinal trajectories of muscle impairments in growing boys with Duchenne muscular dystrophy

Ines Vandekerckhove, Marleen Van den Hauwe, [ ... ], Kaat Desloovere

Identification of suitable qPCR reference genes for the normalization of gene expression in the BL10-mdx and D2-mdx mouse models of Duchenne muscular dystrophy

Kayleigh Putker, Anne-Fleur Schneider, [ ... ], Maaike van Putten

Respiratory pathology in the mdx/utrn ^-/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD)

Marán Y. Hernández Rodríguez, Debolina D. Biswas, [ ... ], Mai K. ElMallah

Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy

Sharon Barak, Shirley Ackerman Laufer, [ ... ], Tali Kaplan

Height development and multiple bone health indicators in children aged 2–12 years with Duchenne muscular dystrophy (DMD)

Bingying Wang, Linyuhan Zhou, [ ... ], Xiaomei Sun

Determination of qPCR reference genes suitable for normalizing gene expression in a novel model of Duchenne muscular dystrophy, the D2-mdx mouse

Brigida Boccanegra, Roberta Lenti, [ ... ], Annamaria De Luca

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