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European Heart Journal|May 5, 2010
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imagingEstelle Gandjbakhch, Andrzej Gackowski, Sophie Tezenas du Montcel, et al.
Neurologia I Neurochirurgia Polska|June 2, 2009
Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patientsAleksandra Nadaj-Pakleza, Pascale Richard, Anna Lusakowska, et al.
Genetic Testing|October 24, 2007
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA levelOlfa Siala, Nacim Louhichi, Chahnez Triki, et al.
The American Journal of Tropical Medicine and Hygiene|April 8, 2015
Dengue seroprevalence in the French West Indies: a prospective study in adult blood donorsMaïna L'Azou, Janick Jean-Marie, Maël Bessaud, et al.
Muscle & Nerve|December 24, 2005
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon diseaseAndoni Echaniz-Laguna, Michel Mohr, Eric Epailly, et al.
European Heart Journal. Cardiovascular Imaging|May 7, 2019
Global and regional echocardiographic strain to assess the early phase of hypertrophic cardiomyopathy due to sarcomeric mutationsGuillaume Baudry, Nicolas Mansencal, Amelie Reynaud, et al.
Neuromuscular Disorders : NMD|March 17, 2007
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndromePascale Richard, Karen Gaudon, Emmanuel Fournier, et al.
Vox Sanguinis|November 17, 2022
Risk of a blood donation contaminated with hepatitis E virus entering the blood supply before the implementation of universal RNA screening in FranceJosiane Pillonel, Claude Maugard, Cécile Sommen, et al.
Journal of Child Neurology|August 12, 2006
Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spineStefanie Sponholz, Maja von der Hagen, Gabriele Hahn, et al.
Vox Sanguinis|November 25, 2022
Impact of donor ferritin testing on iron deficiency prevention and blood availability in France: A cohort simulation studyPascale Richard, Anne-Marie Fillet, Lucile Malard, et al.
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