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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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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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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stephanie Valence
,
Emmanuelle Cochet
,
Christelle Rougeot
,
Catherine Garel
,
Sandra Chantot-Bastaraud
et al.
Article dans une revue
hal-01932802v1
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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
Cecilia Marelli
,
Foudil Lamari
,
Dominique Rainteau
,
Alexandre Lafourcade
,
Guillaume Banneau
et al.
Article dans une revue
hal-01737580v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
et al.
Article dans une revue
hal-01670135v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
et al.
Article dans une revue
hal-01560204v1
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