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In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses
Caroline Alby
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Lucile Boutaud
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Maryse Bonniere
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Sophie Collardeau-Frachon
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Laurent Guibaud
et al.
Birth Defects Research Part A: Clinical and Molecular Teratology, 2018, 110 (4), pp.382-389. ⟨10.1002/bdr2.1154⟩
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hal-01662369v1
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Ultrasound features of fetal toxoplasmosis: a contemporary multicenter survey in 88 fetuses
Camille Codaccioni
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Olivier Picone
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Véronique Lambert
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Paul Maurice
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Léo Pomar
et al.
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inserm-02883420v1
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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri
,
Audrey Putoux
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Audric Cologne
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Sophie Kaltenbach
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Alicia Besson
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
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hal-04021151v1
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Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Christine Vianey-Saban
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Cécile Acquaviva
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David Cheillan
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Sophie Collardeau-Frachon
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Laurent Guibaud
et al.
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hal-01376842v1
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Sirolimus (rapamycine) pour le traitement des malformations vasculaires de bas débit chez l’enfant : essai randomisé multicentrique ouverte avec une phase observationnelle préalable (PERFORMUS)
Annabel Maruani
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Elsa Tavernier
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Olivia Boccara
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Juliette Mazereuw-Hautier
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Sophie Leducq
et al.
Journal articles
hal-03853706v1
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Severe Chronic Rectocolitis Associated With a Characteristic Sunflower Magnetic Resonance Imaging Pattern
Antoine Fraissenon
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Hélène Desmurs-Clavel
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Laurent Guibaud
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hal-04088703v1
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Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot
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Thomas Blanc
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Smail Hadj Rabia
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Laureline Berteloot
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Sophia Ladraa
et al.
Journal articles
hal-01877949v1
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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
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Laurence Faivre
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Anne-Laure Mosca-Boidron
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Valérie Malan
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Jeanne Amiel
et al.
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istex
hal-01237099v1
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