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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
et al.
Article dans une revue
hal-01670135v1
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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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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Virginie Carmignac
,
Cyril Mignot
,
Emmanuelle Blanchard
,
Paul Kuentz
,
Marie-Hélène Aubriot-Lorton
et al.
Article dans une revue
hal-03602359v1
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Article dans une revue
hal-01064380v1
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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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