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authFullName_s : Laurent Guibaud

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

Caroline Alby , Lucile Boutaud , Maryse Bonniere , Sophie Collardeau-Frachon , Laurent Guibaud et al.
Birth Defects Research Part A: Clinical and Molecular Teratology, 2018, 110 (4), pp.382-389. ⟨10.1002/bdr2.1154⟩
Journal articles hal-01662369v1
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Ultrasound features of fetal toxoplasmosis: a contemporary multicenter survey in 88 fetuses

Camille Codaccioni , Olivier Picone , Véronique Lambert , Paul Maurice , Léo Pomar et al.
Prenatal Diagnosis, 2020, ⟨10.1002/pd.5756⟩
Journal articles 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 , Audric Cologne , Sophie Kaltenbach , 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⟩
Journal articles hal-04021151v1

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Christine Vianey-Saban , Cécile Acquaviva , David Cheillan , Sophie Collardeau-Frachon , Laurent Guibaud et al.
Journal of Inherited Metabolic Disease, 2016, 39 (5), pp.611-624. ⟨10.1007/s10545-016-9947-8⟩
Journal articles hal-01376842v1

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 , Elsa Tavernier , Olivia Boccara , Juliette Mazereuw-Hautier , Sophie Leducq et al.
Annales de Dermatologie et de Vénéréologie - FMC, 2021, 1 (8), pp.A88. ⟨10.1016/j.fander.2021.09.492⟩
Journal articles hal-03853706v1

Severe Chronic Rectocolitis Associated With a Characteristic Sunflower Magnetic Resonance Imaging Pattern

Antoine Fraissenon , Hélène Desmurs-Clavel , Laurent Guibaud
Gastroenterology, 2023, 164 (4), pp.529-532. ⟨10.1053/j.gastro.2022.10.033⟩
Journal articles hal-04088703v1

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa et al.
Nature, 2018, 558 (7711), pp.540 - 546. ⟨10.1038/s41586-018-0217-9⟩
Journal articles hal-01877949v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1