Sample records for 点缺陷 (point defects)
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20

Fine mapping of the 9q31 Hirschsprung’s disease locus

Tang, S. C.; Sribudiani, Y.; Miao, P. X.; Vries, R. A.; Burzynski, G.; So, T. M.; Leon, Y. Y.; Yip, H. B.; Osinga, J.

Hirschsprung’s disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the dis...

DRIVER (Chinese)