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Journal Article
Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume 
ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd
(2016).
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum. Mutat., 37 (9).
S. 847 - 865.
HOBOKEN:
WILEY.
ISSN 1098-1004
Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie ORCID: 0000-0003-1010-5618, Lohmann, Dietmar R. ORCID: 0000-0002-2624-9889, Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nuernberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214 and Doray, Berenice
(2014).
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Genet. Med., 16 (9).
S. 720 - 725.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366