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Etude clinique et génétique chez 80 patients atteints de syndrome de Joubert
Lydie Burglen
,
Alexandra Afenjar
,
Catherine Garel
,
Vincent Des Portes
,
Marie-Laure Moutard
et al.
21ème congrès de la société française de neurologie pédiatrique, Jan 2012, Lyon, France
Conference papers
hal-00951415v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh
,
Delphine Héron
,
Timothy J. Edwards
,
Angélique Quartier
,
Charles Galea
et al.
Journal articles
hal-01502133v1
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Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis.
Léna Damaj
,
Bertrand Bruneau
,
Mathilde Ferry
,
Marie-Laure Moutard
,
Catherine Garel
et al.
Journal articles
istex
inserm-00583106v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Journal articles
hal-01502135v1
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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.
Journal articles
hal-01919142v1
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent
,
David Geneviève
,
Agnès Ostertag
,
Sandrine Marlin
,
Didier Lacombe
et al.
Journal articles
hal-01134364v1
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Epilepsy in young Tsc1+/− mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex
Svetlana Gataullina
,
Eric Lemaire
,
Fabrice Wendling
,
Anna Kaminska
,
Françoise Watrin
et al.
Journal articles
hal-01274304v1
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