Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Julie Litzler"'
Autor:
Kheira Mezouaghi, Marie-Line Jacquemont, Julie Litzler, Natalie Loundon, Souad Gherbi, Jean-Paul Bonnefont, Ines Ben Aissa, Justine Lerat, Françoise Denoyelle, François Cartault, Françoise Darcel, Laurence Jonard, Isabelle Rouillon, Crystel Bonnet, Fabienne Saint James Digeon, Emmanuelle Génin, Agnès Guichet, Sandrine Marlin, Erea-Noel Garabedian, Roselyne Gesny
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2018, 95 (1), pp.177-181. ⟨10.1111/cge.13460⟩
Clinical Genetics, Wiley, 2018, 95 (1), pp.177-181. ⟨10.1111/cge.13460⟩
International audience; Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingua
Autor:
null Justine Lerat, null Crystel Bonnet, null François Cartault, null Natalie Loundon, null Marie-Line Jacquemont, null Françoise Darcel, null Isabelle Rouillon, null Kheira Mezouaghi, null Agnes Guichet, null Julie Litzler, null Roselyne Gesny, null Souad Gherbi, null Ines B.E.N. Aissa, null Fabienne S.A.I.N.T.J.A.M.E.S. Digeon, null Eréa-Nöel Garabedian, null Jean-Paul Bonnefont, null Emmanuelle Genin, null Françoise Denoyelle, null Laurence Jonard, null Sandrine Marlin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61b26a6c7921fbecf13f09a7b5ec4da7
https://doi.org/10.1111/cge.13460/v2/response1
https://doi.org/10.1111/cge.13460/v2/response1
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
Autor:
Valérie Cormier-Daire, Philip L. Beales, Férechté Encha-Razavi, Albert Schinzel, Anita Rauch, Nathalie Boddaert, Audrey Putoux, Caroline Alby, Julie Litzler, Sheela Nampoothiri, Deborah Bartholdi, Nadia Elkhartoufi, Rajesh Kannan, Tania Attié-Bitach, Nicole Laurent, Laurence Faivre, Sophie Thomas, Amale Ichkou, Arnold Munnich, Michel Vekemans
Publikováno v:
Journal of medical genetics. 49(11)
Background Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we iden