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WWOX -related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Cyril Mignot
,
Laetitia Lambert
,
Laurent Pasquier
,
Thierry Bienvenu
,
Andrée Delahaye-Duriez
et al.
Article dans une revue
hal-01686391v1
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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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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
Mathilde Lefebvre
,
Anne Dieux-Coeslier
,
Geneviève Baujat
,
Elise Schaefer
,
Saint-Onge Judith
et al.
Article dans une revue
hal-02012240v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Article dans une revue
hal-01237103v1
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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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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany
,
Christel Thauvin-Robinet
,
Daphne Lehalle
,
Ange-Line Bruel
,
Paul Masurel-Paulet
et al.
Article dans une revue
hal-01626052v1
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