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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Claude Messiaen
,
Caroline Racine
,
Ahlem Khatim
,
Louis Soussand
,
Sylvie Odent
et al.
Article dans une revue
hal-03403349v1
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B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Kevin Yauy
,
Frederic Tran Mau-Them
,
Marjolaine Willems
,
Christine Coubes
,
Patricia Blanchet
et al.
Article dans une revue
hal-01634463v1
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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Frederic Tran Mau-Them
,
Sebastien Moutton
,
Caroline Racine
,
Antonio Vitobello
,
Ange-Line Bruel
et al.
Article dans une revue
hal-03573698v1
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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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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Anaïs Begemann
,
Heinrich Sticht
,
Amber Begtrup
,
Antonio Vitobello
,
Laurence Faivre
et al.
Article dans une revue
hal-03029836v1
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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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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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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jeremie Courraud
,
Eric Chater-Diehl
,
Benjamin Durand
,
Marie Vincent
,
Maria del Mar Muniz Moreno
et al.
Article dans une revue
hal-03269307v1
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