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Stem Cell Research|December 9, 2021
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variantFlavie Ader, Laetitia Duboscq-Bidot, Sibylle Marteau, et al.
Prenatal Diagnosis|September 24, 2004
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first casePhilippe Charron, Delphine Héron, Marcela Gargiulo, et al.
Neuromuscular Disorders : NMD|December 17, 2008
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophySamira Makri, Nigel F Clarke, Pascale Richard, et al.
Muscle & Nerve|September 17, 2011
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophyLuis Redondo-Vergé, Rabah Ben Yaou, María Fernández-Recio, et al.
Cardiovascular Research|January 31, 2015
Genetic advances in sarcomeric cardiomyopathies: state of the artCarolyn Y Ho, Philippe Charron, Pascale Richard, et al.
The American Journal of Cardiology|November 26, 2003
Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscanyFrancesca Torricelli, Francesca Girolami, Iacopo Olivotto, et al.
Biology Open|September 6, 2022
Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variantsFlavie Ader, Maria Russi, Laura Tixier-Cardoso, et al.
European Heart Journal. Case Reports|April 7, 2025
Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with LMNA mutationAndreas Müssigbrodt, Romain Vergier, Maria Herrera Bethencourt, et al.
Neuromuscular Disorders : NMD|December 17, 2009
Rigid spine syndrome revealing late-onset Pompe diseasePascal Laforêt, Valérie Doppler, Catherine Caillaud, et al.
British Journal of Haematology|June 1, 2011
Identification of RHCE and KEL alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patientsMonique Silvy, Julie Di Cristofaro, Sophie Beley, et al.
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