TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

gan Larson, Austin A., Baker, Peter R., Milev, Miroslav P., Press, Craig A., Sokol, Ronald J., Cox, Mary O., Lekostaj, Jacqueline K., Stence, Aaron A., Bossler, Aaron D., Mueller, Jennifer M., Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A., Sacher, Michael, Moore, Steven A.
Cyhoeddwyd yn Skelet Muscle (2018)

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

gan Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tartaglia, Nicole R, Evans, Patricia, Campbell, William M, Chun-Hui Tsai, Anne, Parsley, Lea, Grayson, Stephanie W, Scheuerle, Angela, Luzzi, Carol D, Thomas, Sandra K, Eng, Patricia A, Kang, Sung-Hae L, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau W
Cyhoeddwyd 2012