SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
Researcher profile · Semantic Scholar
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
A. Kahkoska, Madison Watts, K. Driscoll, F. Bishop +5 more
Lydia L. Snyder, Y. Truong, J. Law
Angelica Cristello Sarteau, Katherine J. Souris, Jessica Wang, Amira Ramadan +16 more
A. Delaney, Rita Volochayev, Brooke N Meader, Janice S. Lee +42 more
Alissa J. Roberts, J. Law, C. Suerken, B. Reboussin +4 more
Victoria Fitz, J. Law, M. Peavey
J. Law, J. Stafford, R. D'Agostino, Angela Badaru +6 more
Ashley B. Jessup, J. Law, A. Spagnoli
J. Hunter, Melissa A. Davis, J. Law
T. Crume, Jeanette S. Andrews, R. D'Agostino, D. Pettitt +8 more
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
J. Law, G. Yeşiltepe-Mutlu, S. Helms, E. Meyer +5 more
J. Law, Sang Lee, E. Sasatomi, Christine Bookhout +1 more
Bradly J. Thrasher, Jennifer K. E. Whitham, J. Law
J. Law, K. Northrup, R. Wittberg, C. Lilly +1 more
Kathy Peticolas, Saif S. Khairat, Carl J. Seashore, J. Law
Susan Okuno-Jones, A. Siehoff, J. Law, Patricia Juárez
J. Law, S. Helms, E. Meyer, Ş. Hatun +1 more
J. Law, Shipra Patel, A. Spagnoli
J. Law, J. Ross, Chijioke Ikomi, J. Blatt +2 more
V. Purusothaman, V. Fitz, J. Law, E. Rosen +1 more
A. Delaney, Rita Volochayev, Brooke N Meader, Janice S. Lee +32 more
Alissa J. Roberts, J. Law, C. Suerken, B. Reboussin +4 more
M. Davies, Janette Logan, J. Law