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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
Chloé Angelini
,
Julien van Gils
,
Antoine Bigourdan
,
Pierre-Simon Jouk
,
Didier Lacombe
et al.
Article dans une revue
hal-01952641v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
hal-02064139v1
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Imaging of dense cell cultures by multiwavelength lens-free video microscopy
C. Allier
,
S. Morel
,
R. Vincent
,
L. Ghenim
,
F. Navarro
et al.
Article dans une revue
hal-02095398v1
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot
,
Alice Masurel
,
Salima El Chehadeh
,
Anne-Laure Mosca-Boidron
,
Christel Thauvin-Robinet
et al.
Article dans une revue
hal-01400905v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
Article dans une revue
istex
hal-01237099v1
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