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[OISO, automatic treatment of patients management in oncogenetics].
Celine Guien
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Article dans une revue
hal-01680483v1
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Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome
Olivier Milleron
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Florence Arnoult
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Gabriel Delorme
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Delphine Detaint
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Quentin Pellenc
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et al.
Article dans une revue
hal-02499441v1
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Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison
S. Benoit
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C. Stalens
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L. Villa
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Celine Guien
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5. Congress of the European-Academy-of-Neurology (EAN), Jun 2019, Oslo, Norway. 1 p., ⟨10.1111/ene.14018⟩
Communication dans un congrès
hal-02735494v1
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Extreme multifunctional proteins identified from a human protein interaction network.
Charles E Chapple
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Benoît Robisson
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Lionel Spinelli
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Celine Guien
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Becker Emmanuelle
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et al.
Article dans une revue
hal-01407399v1
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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases
Amélie Pinard
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David Salgado
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Jean-Pierre Desvignes
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Ghadi Rai
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Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩
Article dans une revue
hal-01457375v1
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population
Pauline Romanet
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Amira Mohamed
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Sophie Giraud
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Marie-Françoise Odou
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Marie-Odile North
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et al.
Article dans une revue
hal-01975538v1
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Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.
Olivier Milleron
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Jacques Ropers
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Florence Arnoult
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Claire Bouleti
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Gabriel Delorme
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Article dans une revue
hal-02063320v1
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Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies
Florence Koeppel
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Etienne Muller
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Alexandre Harlé
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Celine Guien
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Pierre Sujobert
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et al.
Article dans une revue
hal-03408473v1
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The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Celine Guien
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Gaëlle Blandin
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Pauline Lahaut
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Benoît Sanson
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Katia Nehal
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et al.
Article dans une revue
hal-01984873v1
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