BetterScholar BetterScholar
7
Role
Title
Level Year L/R
🐜 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
66 auth. C. T. Gordon, C. T. Gordon, Shifeng Xue, G. Yigit, Hicham Filali, Hicham Filali, Hicham Filali, Kelan Chen, Kelan Chen, N. Rosin, K. Yoshiura, M. Oufadem, M. Oufadem, Tamara Beck, R. McGowan, ... A. Magee, J. Altmüller, Camille Dion, H. Thiele, Alexandra D. Gurzau, Alexandra D. Gurzau, P. Nürnberg, D. Meschede, W. Mühlbauer, N. Okamoto, V. Varghese, Rachel Irving, S. Sigaudy, Denise Williams, S. Ahmed, C. Bonnard, M. K. Kong, I. Ratbi, N. Fejjal, M. Fikri, S. Elalaoui, H. Reigstad, C. Bôle-Feysot, C. Bôle-Feysot, P. Nitschké, P. Nitschké, N. Ragge, N. Lévy, G. Tunçbilek, Audrey S. M. Teo, M. Cunningham, A. Sefiani, H. Kayserili, James M. Murphy, James M. Murphy, C. Chatdokmaiprai, A. Hillmer, D. Wattanasirichaigoon, S. Lyonnet, S. Lyonnet, S. Lyonnet, F. Magdinier, Asif Javed, M. Blewitt, M. Blewitt, J. Amiel, J. Amiel, J. Amiel, Bernd Wollnik, Bernd Wollnik, B. Reversade
6 2017
6
🐜
🐜 Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
26 auth. Shifeng Xue, J. Maluenda, F. Marguet, M. Shboul, Loïc Quevarec, C. Bonnard, A. Y. Ng, S. Tohari, T. Tan, M. K. Kong, K. Monaghan, M. Cho, C. Siskind, J. Sampson, C. Rocha, ... F. Alkazaleh, M. Gonzalès, L. Rigonnot, S. Whalen, M. Gut, I. Gut, M. Bucourt, B. Venkatesh, A. Laquérriere, B. Reversade, J. Melki
4 2017
4
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