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Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca
,
Olivier Patat
,
Sandra Whalen
,
Lionel Arnaud
,
Giulia Barcia
et al.
Journal articles
hal-03244899v1
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Searching for secondary findings: considering actionability and preserving the right not to know
Bertrand Isidor
,
Sophie Julia
,
Pascale Saugier-Veber
,
Paul-Loup Weil-Dubuc
,
Stephane Bezieau
et al.
Journal articles
hal-02904506v1
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Benjamin Cogné
,
Xenia Latypova
,
Lokuliyanage Dona Samudita Senaratne
,
Ludovic Martin
,
Daniel C. Koboldt
et al.
Journal articles
hal-03490699v1
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Mara Cavallin
,
Maria A Rujano
,
Nathalie Bednarek
,
Daniel Medina-Cano
,
Antoinette Bernabe Gelot
et al.
Journal articles
hal-02620552v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Journal articles
hal-01920261v1
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Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region
Mathilde Nizon
,
Alex Magee
,
Bertrand Isidor
,
Laurent Magy
,
Yann Péréon
et al.
Journal articles
hal-01474302v1
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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.
Journal articles
hal-03269307v1
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