 | Up a level |
Journal Article
Gordon, Christopher T., Xue, Shifeng 
ORCID: 0000-0002-4668-5952, Yigit, Goekhan, Filali, Hicham ORCID: 0000-0003-3352-740X, Chen, Kelan ORCID: 0000-0003-1973-5405, Rosins, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J., McGowan, Ruth, Magee, Alex C., Altmueller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D., Nuernberg, Peter, Meschede, Dieter, Muehlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S. Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschke, Patrick, Ragge, Nicola, Levy, Nicolas, Tuncbilek, Goekhan, Teo, Audrey S. M., Cunningham, Michael L., Sefiani, Abdelaziz, Kayserili, Huelya, Murphy, James M., Chatdokmaiprai, Chalermpong, Hillmer, Axel M., Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Magdinier, Frederique ORCID: 0000-0002-0159-9559, Javed, Asif, Blewitt, Marnie E., Amiel, Jeanne, Wollnik, Bernd and Reversade, Bruno
(2017).
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nature Genet., 49 (2).
S. 249 - 256.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
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