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Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design
Annabel Maruani
,
Olivia Boccara
,
Didier Bessis
,
Laurent Guibaud
,
Pierre Vabres
et al.
Article dans une revue
hal-01913363v1
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Severe gynaecological involvement in Proteus Syndrome
Maella Severino-Freire
,
Aude Maza
,
Paul Kuentz
,
Yannis Duffourd
,
Laurence Faivre
et al.
Article dans une revue
hal-01862400v1
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Elodie Bal
,
Hyun-Sook Park
,
Zakia Belaid-Choucair
,
Hulya Kayserili
,
Magali Naville
et al.
Article dans une revue
hal-02415844v1
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Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
Jennifer Brun
,
Christine Chiaverini
,
Caroline Devos
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Stéphanie Leclerc-Mercier
,
Juliette Mazereeuw-Hautier
et al.
Article dans une revue
hal-01577342v1
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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Mustapha Amyere
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Nicole Revencu
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Raphaël Helaers
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Eleonore Pairet
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Eulalia Baselga
et al.
Article dans une revue
hal-01726521v1
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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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Judith Saint-Onge
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Yannis Duffourd
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Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature
Didier Bessis
,
Michèle Bigorre
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Nausicaa Malissen
,
Guillaume Captier
,
Christine Chiaverini
et al.
Article dans une revue
hal-01579056v1
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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
,
Juliette Albuisson
et al.
Article dans une revue
hal-03158801v1
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