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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
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Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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Tongue psoriasis: Clinical aspects and analysis of epidemiological associations in 313 children, with a systematic literature review
D. Pourchot
,
C. Chiaverini
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E. Bourrat
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S. Barbarot
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Pierre Vabres
et al.
Article dans une revue
hal-01941075v1
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Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum
Alain Sarasin
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Samuel Quentin
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Nathalie Droin
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Mourad Sahbatou
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Véronique Saada
et al.
Article dans une revue
hal-02391880v1
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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 Correlation
Maud Jordan
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Virginie Carmignac
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Arthur Sorlin
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Paul Kuentz
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Juliette Albuisson
et al.
Article dans une revue
hal-03158801v1
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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
Fabienne Lesueur
,
Mahaut de Lichy
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Michel Barrois
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Guillermo Durand
,
Johny Bombled
et al.
Article dans une revue
hal-02196212v1
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