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2017
Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier 
ORCID: 0000-0002-8896-5098, Blouin, Stephane ORCID: 0000-0001-6575-8443, Ali, Nur'Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zakiah A., van Hul, Noemi, Caldez, Matias J., Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Yigit, Gokhan, Kayserili, Hulya, Youssef, Sameh A., Coppola, Vincenzo ORCID: 0000-0001-6163-1779, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon ORCID: 0000-0002-6687-3088, Rupp, Verena ORCID: 0000-0003-0234-3325, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmueller, Janine, Roy, Sudipto, Venkatesh, Byrappa ORCID: 0000-0003-3620-0277, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Al Kaissi, Ali, Reversade, Bruno and Kaldis, Philipp ORCID: 0000-0002-7247-7591
(2017).
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am. J. Hum. Genet., 101 (3).
S. 391 - 404.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2016
Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd
(2016).
An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity.
Am. J. Med. Genet. A, 170 (12).
S. 3282 - 3289.
HOBOKEN:
WILEY.
ISSN 1552-4833
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
2015
Yigit, Goekhan, Brown, Karen E., Kayserili, Hulya ORCID: 0000-0003-0376-499X, Pohl, Esther, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Zahnleiter, Diana, Rosser, Elisabeth, Boegershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nuernberg, Gudrun, Nuernberg, Peter, Rauch, Anita ORCID: 0000-0003-2930-3163, Li, Yun, Thiel, Christian Thomas and Wollnik, Bernd
(2015).
Mutations in CDK5RAP2 cause Seckel syndrome.
Mol. Genet. Genom. Med., 3 (5).
S. 467 - 481.
HOBOKEN:
WILEY.
ISSN 2324-9269