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X-linked traits

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

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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

Shashwat Kumar, Arafat Rahman, Robert Gutierrez, Sarah Livermon, Allison N. McCrady, Silvia Blemker, Rebecca Scharf, Anuj Srivastava, Laura E. Barnes

published 10 Oct 2025

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

Joo-Young Byun, Jae-Hoon Jung, Suk-Chan Jang, Jamin Lim, Mihai Park, Eui-Kyung Lee

published 06 Oct 2025

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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, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke

published 30 Jun 2025

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

Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y. Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J. Ward, Erik H. Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators , Association Française contre les Myopathies , The NorthStar Clinical Network , Craig McDonald

published 27 Jun 2025

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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, Claire L. Wood, Sze Choong Wong, Lucy Bray

published 02 Jun 2025

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

Pia Ransmann, Marius Brühl, Jamil Hmida, Georg Goldmann, Johannes Oldenburg, Frank Alexander Schildberg, Robert Ossendorff, Fabian Tomschi, Alexander Schmidt, Thomas Hilberg, Andreas Christian Strauss

published 26 Mar 2025

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

Ines Vandekerckhove, Marleen Van den Hauwe, Tijl Dewit, Geert Molenberghs, Nathalie Goemans, Liesbeth De Waele, Anja Van Campenhout, Friedl De Groote, Kaat Desloovere

published 18 Mar 2025

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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, Davy Van De Vijver, John Hildyard, Annemieke Aartsma-Rus, Maaike van Putten

published 25 Feb 2025

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

Marán Y. Hernández Rodríguez, Debolina D. Biswas, Aoife D. Slyne, Jane Lee, Evelyn Scarrow, Sarra M. Abdelbarr, Heather Daniels, Ken D. O’Halloran, Leonardo F. Ferreira, Charles A. Gersbach, Mai K. ElMallah

published 07 Feb 2025

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

Sharon Barak, Shirley Ackerman Laufer, Michal Gudinsky Elyashiv, Sharon Rubinstein-Shatz, Rama Davidson, Tali Kaplan

published 14 Jan 2025

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

Bingying Wang, Linyuhan Zhou, Shuangru Li, Huayan Xu, Yingkun Guo, Qin Hu, Min Huang, Dan Zhou, Xiaotang Cai, Qiu Wang, Xiaomei Sun

published 10 Jan 2025

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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, Paola Mantuano, Elena Conte, Lisamaura Tulimiero, Richard J. Piercy, Ornella Cappellari, John C. W. Hildyard, Annamaria De Luca

published 13 Nov 2024

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