Pai syndrome: From the womb until 19 months of age, a neurological development success story

por Hassan, Hala, Buzas, Daniella L., Bazin, Anne, Stempfle, Noëlle, Guët, Agnès, Poncelet, Christophe, Veluppillai, Cergika
Publicado 2021

Antenatal diagnosis of absence of septum pellucidum

por Ben M'Barek, Imane, Tassin, Mikael, Guët, Agnes, Simon, Isabelle, Mairovitz, Valerie, Mandelbrot, Laurent, Picone, Olivier
Publicado 2020

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

por Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion
Publicado 2023