@article{margot:hal-02268419,
TITLE = {Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals},
AUTHOR = {Margot, Henri and Boursier, Guilaine and Duflos, Claire and Sanchez, Elodie and Amiel, Jeanne and Andrau, Jean Christophe and Arpin, St{\'e}phanie and Brischoux-Boucher, Elise and Boute, Odile and Burglen, Lydie and Caille, Charlotte and Capri, Yline and Collignon, Patrick and Conrad, Sol{\`e}ne and Cormier-Daire, Valerie and Delplancq, Geoffroy and Dieterich, Klaus and Dollfus, H{\'e}l{\`e}ne and Fradin, M{\'e}lanie and Faivre, Laurence and Fernandes, Helder and Francannet, Christine and Gatinois, Vincent and G{\'e}rard, Marion and Goldenberg, Alice and Ghoumid, Jamal and Grotto, Sarah and Guerrot, Anne-Marie and Guichet, Agn{\`e}s and Isidor, Bertrand and Jacquemont, Marie-Line and Julia, Sophie and Philip, K and Legendre, Marine and Le Quan Sang, K. and Leheup, Bruno and Lyonnet, Stanislas and Magry, Virginie and Manouvrier, Sylvie and Martin, Dominique P. and Morel, Godelieve and Munnich, Arnold and Naudion, Sophie and Odent, Sylvie and Perrin, Laurence and Petit, Florence and Philip, Nicole and Rio, Marl{\`e}ne and Robbe, Julie and Rossi, Massimiliano and Sarrazin, Elisabeth and Toutain, Annick and van Gils, Julien and Vera, Gabriella and Verloes, Alain and Weber, Sacha and Whalen, Sandra and Sanlaville, Damien and Lacombe, Didier and Aladjidi, Nathalie and Genevi{\`e}ve, David and Khau van Kien, Philippe and van Gils, Julie},
URL = {https://normandie-univ.hal.science/hal-02268419},
JOURNAL = {Genetics in Medicine},
PUBLISHER = {Nature Publishing Group},
VOLUME = {22},
NUMBER = {1},
PAGES = {181-188},
YEAR = {2020},
MONTH = Jan, DOI = {10.1038/s41436-019-0623-x},
KEYWORDS = {KDM6A ; immunity ; Kabuki syndrome ; KMT2D},
PDF = {https://normandie-univ.hal.science/hal-02268419/file/2020%20%20Margot%20et%20al.%2C%20Immunoathological.pdf},
HAL_ID = {hal-02268419},
HAL_VERSION = {v1},
}
Affichage BibTex