Annabel Maruani
3
Documents
Identifiants chercheurs
- annabel-maruani
- ResearcherId : L-9017-2015
- IdRef : 088646270
- 0000-0003-3734-810X
- ResearcherId : http://www.researcherid.com/rid/L-9017-2015
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Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-020-01652-w⟩
Article dans une revue
hal-03342690v1
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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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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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