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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutationsEP-Europace, 2016, ⟨10.1093/europace/euw067⟩
Article dans une revue
hal-01444277v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue
hal-01560452v1
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype CorrelationJournal of Investigative Dermatology, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Article dans une revue
hal-03158801v1
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