Zobrazeno 1 - 1
of 1
pro vyhledávání: '"MESH: Zebrafish / abnormalities"'
Autor:
Tania Attié-Bitach, Sophie Saunier, Mandy Kwong, Nadia Elkhartoufi, Enza Maria Valente, Isabelle Perrault, Joseph G. Gleeson, Alessia Micalizzi, Stéphanie Le Corre, Marta Romani, Julie Litzler, Lydie Burglen, Iain A. Drummond, Kevin J. Wright, Avinash Abhyankar, Julien Saada, Jean-Laurent Casanova, Stanislas Lyonnet, Nathalie Boddaert, Nicolas Chassaing, Arnold Munnich, Jeanne Amiel, Peter K. Jackson, Emilie Filhol, Michel Vekemans, Ferechté Encha-Ravazi, Wolfgang Baehr, Sophie Thomas
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2014, 35 (1), pp.137-146. ⟨10.1002/humu.22470⟩
Human Mutation, Wiley, 2014, 35 (1), pp.137-146. ⟨10.1002/humu.22470⟩
International audience; Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea54b2a50db5d77c8971d0cf7982565
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240698
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240698