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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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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Deepika d'Cunha Burkardt
,
Anna Zachariou
,
Chey Loveday
,
Clare Allen
,
David Amor
et al.
Article dans une revue
hal-02393762v1
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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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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Victoria Parker
,
Kim Keppler-Noreuil
,
Laurence Faivre
,
Maxime Luu
,
Neal Oden
et al.
Article dans une revue
hal-02000984v1
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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
Pauline Arnaud
,
Caroline Racine
,
Nadine Hanna
,
Julien Thevenon
,
Jean-Luc Alessandri
et al.
Article dans une revue
hal-02500544v1
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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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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Aurore Garde
,
Jenny Cornaton
,
Arthur Sorlin
,
Sébastien Moutton
,
Claire Nicolas
et al.
Article dans une revue
hal-03124488v1
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin
,
Yannis Duffourd
,
Rebecca a Barnard
,
Sébastien Moutton
,
François Lecoquierre
et al.
Article dans une revue
hal-03619568v1
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Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
Felix Marbach
,
Beata S. Lipska-Zietkiewicz
,
Agata Knurowska
,
Vincent Michaud
,
Henri Margot
et al.
Article dans une revue
hal-03819128v1
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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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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Carla Marini
,
Alessandro Porro
,
Agnès Rastetter
,
Carine Dalle
,
Ilaria Rivolta
et al.
Article dans une revue
hal-01977974v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen
,
Elena Gardella
,
Cathrine E Gjerulfsen
,
Allan Bayat
,
Rob P W Rouhl
et al.
Article dans une revue
hal-03881856v1
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
Jeremie Mortreux
,
Tiffany Busa
,
Dominique P. Germain
,
Gwenaël Nadeau
,
Jacques Puechberty
et al.
Article dans une revue
hal-01668647v1
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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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