by Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Published in Journal of medical genetics (01.04.2017)

by Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, Tartaglia, Marco
Published in European journal of human genetics : EJHG (01.08.2024)

by Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.03.2013)

by Liu, Jiawei, Froelicher, Joseph H., French, Brooke, Linguraru, Marius George, Porras, Antonio R.
Published in Scientific reports (23.11.2023)

by Arenas, María Alejandra, Jaimovich, Sebastián, Perez Garrido, Natalia, del Pino, Mariana, Viterbo, Gisela, Marino, Roxana, Fano, Virginia
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2021)

by De Luca, Chiara, Picone, Simonetta, Cassina, Matteo, Marziali, Simone, Morlino, Silvia, Camerota, Letizia, Tamburrini, Gianpiero, Castori, Marco, Paolillo, Piermichele, Salviati, Leonardo, Brancati, Francesco
Published in American journal of medical genetics. Part A (01.07.2021)

by Durmaz, Ceren Damla, Altıner, Şule
Published in American journal of medical genetics. Part A (01.07.2021)

by Di Rocco, F., Rothenbuhler, A., Cormier Daire, V., Bacchetta, J., Adamsbaum, C., Baujat, G., Rossi, M., Lingart, A.
Published in Neuro-chirurgie (01.11.2019)

by Gracia, Ana, Arsuaga, Juan Luis, Martínez, Ignacio, Lorenzo, Carlos, Carretero, José Miguel, Bermúdez de Castro, José María, Carbonell, Eudald
Published in Proceedings of the National Academy of Sciences - PNAS (21.04.2009)

by Kamochi, Hideaki, Sunaga, Ataru, Chi, Daekwan, Asahi, Rintaro, Nakagawa, Shiho, Mori, Masanori, Uda, Hirokazu, Sarukawa, Shunji, Sugawara, Yasushi, Yoshimura, Kotaro
Published in Journal of cranio-maxillo-facial surgery (01.11.2017)

by Coll, G., Abed Rabbo, F., Jecko, V., Sakka, L., Di Rocco, F., Delion, M.
Published in Neuro-chirurgie (01.11.2019)

by Adel, Mohamed, Yamaguchi, Tetsutaro, Tomita, Daisuke, Nakawaki, Takatoshi, Kim, Yong-Il, Hikita, Yu, Haga, Shugo, Takahashi, Masahiro, Nadim, Mohamed A., Kawaguchi, Akira, Isa, Mutsumi, El-Kenany, Walid H., El-Kadi, Abbadi A., Park, Soo-Byung, Ishida, Hajime, Maki, Koutaro, Kimura, Ryosuke
Published in PloS one (27.01.2017)

by Saber, Nikoo R., Phillips, John, Looi, Thomas, Usmani, Zoha, Burge, Jonathan, Drake, James, Kim, Peter C. W.
Published in Child's nervous system (01.03.2012)

by Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, Brunner, Han G, de Vries, Bert B B A
Published in Nature genetics (01.08.2011)

by Calandrelli, Rosalinda, D’Apolito, Gabriella, Panfili, Marco, Massimi, Luca, Caldarelli, Massimo, Colosimo, Cesare
Published in Child's nervous system (01.03.2016)

by Silveira Camargos, Isadora, Metzler, Philipp, Persing, John, Alcon, Andre, Steinbacher, Derek M.
Published in Journal of plastic, reconstructive & aesthetic surgery (01.05.2015)

by Shim, Kyu Won, Lee, Min Jin, Lee, Myung Chul, Park, Eun Kyung, Kim, Dong Seok, Hong, Helen, Kim, Yong Oock
Published in Child's nervous system (01.03.2016)

by Florisson, Joyce M. G., Dudink, Jeroen, Koning, Irene V., Hop, Wim C. J., van Veelen, Marie-Lise C., Mathijssen, Irene M. J., Lequin, Maarten H.
Published in Radiology (01.11.2011)

by Lin, Ying, Ai, Siming, Chen, Chuan, Liu, Xialin, Luo, Lixia, Ye, Shaobi, Liang, Xuanwei, Zhu, Yi, Yang, Huasheng, Liu, Yizhi
Published in Molecular vision (15.05.2012)

by Ruan, W.H., Winger, J.N., Yu, J.C., Borke, J.L.
Published in Journal of dental research (01.09.2008)