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Circulation|April 23, 2003
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyPascale Richard, Philippe Charron, Lucie Carrier, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutationRabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, et al.
Transfusion|March 27, 2009
Prospective observational study of low thresholds for platelet transfusion in adult dengue patientsLaurent Thomas, Stéphane Kaidomar, Brigitte Kerob-Bauchet, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
European Radiology|May 27, 2018
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidityMickael Tordjman, Ivana Dabaj, Pascal Laforet, et al.
Archives of Medical Science : AMS|May 18, 2016
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathiesAndreas Perrot, Pavol Tomasov, Eric Villard, et al.
Clinical Genetics|January 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic CounselingMarie Massier, Pascal de Groote, Erwan Donal, et al.
British Journal of Haematology|October 30, 2024
Frequencies and causes of ABO-incompatible red cell transfusions in France, Germany and the United KingdomAline Mirrione-Savin, Hengameh Aghili Pour, Nicola Swarbrick, et al.
Annals of Clinical and Translational Neurology|July 27, 2021
Novel dominant distal titinopathy phenotype associated with copy number variationAurélien Perrin, Raul Juntas Morales, Françoise Chapon, et al.
Journal of Neuromuscular Diseases|November 19, 2016
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic CounsellingPascale Richard, Capucine Trollet, Teresa Gidaro, et al.
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