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Number of items: 6.

Journal Article

Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd (2015). RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest., 125 (9). S. 3585 - 3600. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Fischer, Bjoern, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha ORCID: 0000-0002-6624-082X, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti ORCID: 0000-0002-1223-3181, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A. ORCID: 0000-0003-2278-9746, van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva and Kornak, Uwe (2012). Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum. Genet., 131 (11). S. 1761 - 1774. NEW YORK: SPRINGER. ISSN 0340-6717

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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

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

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin ORCID: 0000-0003-0683-9731, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco ORCID: 0000-0002-0589-2584, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane ORCID: 0000-0002-1772-0106, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen ORCID: 0000-0003-4271-5859, Pasquier, Laurent ORCID: 0000-0003-3985-1286, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline ORCID: 0000-0002-9789-3591, Ropers, Fabienne G., Rosello, Monica ORCID: 0000-0001-9234-2953, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill and Santen, Gijs W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet. Med., 21 (6). S. 1295 - 1308. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

This list was generated on Fri Mar 29 10:34:41 2024 CET.