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authFullName_s : Marie-Laure Moutard

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.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Journal articles hal-01502133v1

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.
Prenatal Diagnosis, 2010, 30 (12-13), pp.1143-50. ⟨10.1002/pd.2628⟩
Journal articles istex inserm-00583106v1

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.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
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.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1

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.
Genetics in Medicine, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩
Journal articles hal-01134364v1

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.
Epilepsia, 2016, 57 (4), pp.648-659. ⟨10.1111/epi.13325⟩
Journal articles hal-01274304v1