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The landscape of epilepsy-related GATOR1 variants
Sara Baldassari
,
Fabienne Picard
,
Nienke E. Verbeek
,
Marjan van Kempen
,
Eva Brilstra
et al.
Article dans une revue
hal-02063270v1
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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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Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari
,
Fabienne Picard
,
Nienke E. Verbeek
,
Marjan van Kempen
,
Eva Brilstra
et al.
Article dans une revue
hal-02066352v1
|
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot
,
Aoife Mcmahon
,
Claire Bar
,
Philippe Campeau
,
David Davidson
et al.
Article dans une revue
hal-01919142v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
et al.
Article dans une revue
hal-01560204v1
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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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Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Jean-Luc Alessandri
,
Christopher T Gordon
,
Marie-Line Jacquemont
,
Nicolas Gruchy
,
Norbert Ajeawung
et al.
Article dans une revue
hal-02392961v1
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