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X-linked traits

Spatial and age-related changes in the microstructure of dystrophic and healthy diaphragms

Catherine C. Henry, Kyle S. Martin, [ ... ], Silvia S. Blemker

A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts

Øivind Skare, Håkon K. Gjessing, [ ... ], Astanand Jugessur

Mice deficient in the anti-haemophilic coagulation factor VIII show increased von Willebrand factor plasma levels

Klytaimnistra Kiouptsi, Alexandra Grill, [ ... ], Christoph Reinhardt

Spatially localized phosphorous metabolism of skeletal muscle in Duchenne muscular dystrophy patients: 24–month follow-up

M. T. Hooijmans, N. Doorenweerd, [ ... ], H. E. Kan

Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes

Vanessa Borges Pires, Ricardo Simões, [ ... ], Maria Carmo-Fonseca

Seroprevalence and clinical characteristics of viral hepatitis in transfusion-dependent thalassemia and hemophilia patients

Tyng-Yuan Jang, Pei-Chin Lin, [ ... ], Ming-Lung Yu

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, [ ... ], Lu Jiang

Optimal method for assessment of respiratory muscle strength in neuromuscular disorders using sniff nasal inspiratory pressure (SNIP)

Marta Kaminska, Francine Noel, Basil J. Petrof

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Ying-Hao Chen, Yi-Chung Lee, [ ... ], Bing-Wen Soong

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Christina Grau, Molly Starkovich, [ ... ], Daryl A. Scott

Global measurement of coagulation in plasma from normal and haemophilia dogs using a novel modified thrombin generation test – Demonstrated in vitro and ex vivo

Daniel Elenius Madsen, Timothy C. Nichols, [ ... ], Bo Wiinberg

Non-invasive evaluation of muscle disease in the canine model of Duchenne muscular dystrophy by electrical impedance myography

Chady H. Hakim, Alex Mijailovic, [ ... ], Dongsheng Duan

ANG1 treatment reduces muscle pathology and prevents a decline in perfusion in DMD mice

Kelly M. Gutpell, Nikola Tasevski, [ ... ], Lisa Marie Hoffman

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