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Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Lucie Orhant
,
Olivia Anselem
,
Mélanie Fradin
,
Pierre Hadrien Becker
,
Caroline Beugnet
et al.
Journal articles
hal-01272602v1
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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.
Journal articles
hal-02064139v1
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CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes
Ayman El-Seedy
,
Emmanuelle Girodon
,
Caroline Norez
,
Julie Pajaud
,
Marie-Claude Pasquet
et al.
Journal articles
istex
hal-02446189v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Journal articles
hal-01920261v1
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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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p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study
Celine Rene
,
Damien Paulet
,
Emmanuelle Girodon
,
Catherine Costa
,
Guy Lalau
et al.
Journal articles
hal-00567037v1
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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.
Journal articles
istex
hal-01237099v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jeremie Courraud
,
Eric Chater-Diehl
,
Benjamin Durand
,
Marie Vincent
,
Maria del Mar Muniz Moreno
et al.
Journal articles
hal-03269307v1
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