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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres
,
Arthur Sorlin
,
Stanislav S. Kholmanskikh
,
Bénédicte Demeer
,
Judith St Onge
et al.
Article dans une revue
hal-02622254v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome [Correction to: Nature Genetics https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019]
Pierre Vabres
,
Arthur Sorlin
,
Stanislav S. Kholmanskikh
,
Bénédicte Demeer
,
Judith St Onge
et al.
Article dans une revue
hal-02621797v1
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy
,
Bérénice Schell
,
Hala Nasser
,
Myriam Rachid
,
Lyse Ruaud
et al.
Article dans une revue
hal-03700568v1
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres
,
Arthur Sorlin
,
Stanislav S. Kholmanskikh
,
Bénédicte Demeer
,
Judith St Onge
et al.
Article dans une revue
hal-02423646v1
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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
,
Virginie Carmignac
,
Arthur Sorlin
,
Paul Kuentz
,
Juliette Albuisson
et al.
Article dans une revue
hal-03158801v1
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